R10P (p.Arg10Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
R10P (p.Arg10Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- gnomAD 9-134642216-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.48
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available