P21H (p.Pro21His) variant of COL5A1 (Collagen alpha-1(V) chain)
P21H (p.Pro21His) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- gnomAD 9-134642249-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.22
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available