Table 9 Examples of known disease-related variants
From: PaPI: pseudo amino acid composition to score human protein-coding variants
Gene | Protein | PP2 | SIFT | RF | Related Phenotype | PaPI |
|---|---|---|---|---|---|---|
HBB | p.E7V | B (0.002) | D (0.01) | D (0.891) | Sickle cell anemia | D (0.901) |
p.E122Q | B (0.007) | D (0.01) | D (0.975) | Severe sickle cell syndromes | D (0.975) | |
p.E122K | B (0.109) | D (0.0) | D (0.96) | D (1.0) | ||
p.E7K | B (0.006) | D (0.01) | D (0.94) | D (0.94) | ||
G6PD | p.S188F | B (0.039) | D (0.04) | D (0.988) | G6PD deficiency | D (0.988) |