R6S (p.Arg6Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
R6S (p.Arg6Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- gnomAD 9-134642203-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.52
- MetaLR 0.71
- MetaSVM -0.15
- CADD 24.40
- PolyPhen-2 0.35
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available