R109G (p.Arg109Gly) variant of COL5A2 (Collagen alpha-2(V) chain)
R109G (p.Arg109Gly) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R109G (p.Arg109Gly) variant details
- p.Arg109Gly
- Ensembl rs1687107665
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.29
- Population evidence available
- Structural context available