A9G (p.Ala9Gly) variant of COL5A1 (Collagen alpha-1(V) chain)
A9G (p.Ala9Gly) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- gnomAD 9-134642213-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.33
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available