L25V (p.Leu25Val) variant of COL5A1 (Collagen alpha-1(V) chain)
L25V (p.Leu25Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- gnomAD 9-134642260-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.25
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available