A17D (p.Ala17Asp) variant of COL5A1 (Collagen alpha-1(V) chain)
A17D (p.Ala17Asp) 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.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- gnomAD 9-134642237-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.43
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available