D2Y (p.Asp2Tyr) variant of COL5A1 (Collagen alpha-1(V) chain)
D2Y (p.Asp2Tyr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- gnomAD 9-134642191-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.43
- MetaLR 0.62
- MetaSVM -0.27
- CADD 24.70
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available