Table 2 Ranked Variants for HHT sample
From: VarRanker: rapid prioritization of sequence variations associated with human disease
Variant | Functional Damage score | Relevance Score | Overall score |
|---|---|---|---|
RASA1 (p.87_88del) | 25 | 42.9 | 1072.5 |
AGTR1 (p.A244S) | 17.5 | 10.5 | 184.3 |
ENPEP (p.R925G) | 15.8 | 9.5 | 150.0 |
MYOD1 (p.A162V) | 15.7 | 8 | 126.2 |
DBH (p.A362V) | 17.1 | 6.8 | 116.9 |