H4Y (p.His4Tyr) variant of COL5A1 (Collagen alpha-1(V) chain)
H4Y (p.His4Tyr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H4Y (p.His4Tyr) variant details
- p.His4Tyr
- gnomAD 9-134642197-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.34
- MetaLR 0.63
- MetaSVM -0.41
- CADD 18.90
- PolyPhen-2 0.15
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available