A17P (p.Ala17Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
A17P (p.Ala17Pro) 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.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- gnomAD 9-134642236-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.43
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available