R14G (p.Arg14Gly) variant of COL5A1 (Collagen alpha-1(V) chain)
R14G (p.Arg14Gly) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- gnomAD 9-134642227-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.24
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available