G16V (p.Gly16Val) variant of COL5A1 (Collagen alpha-1(V) chain)
G16V (p.Gly16Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 9-134642234-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.28
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available