R10S (p.Arg10Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
R10S (p.Arg10Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- gnomAD 9-134642215-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.37
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available