L27V (p.Leu27Val) variant of COL5A1 (Collagen alpha-1(V) chain)
L27V (p.Leu27Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 9-134642266-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.74
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available