K8R (p.Lys8Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
K8R (p.Lys8Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- gnomAD 9-134642210-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.28
- CADD 24.20
- PolyPhen-2 0.29
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available