V3A (p.Val3Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
V3A (p.Val3Ala) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- gnomAD 9-134642195-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.62
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available