R14S (p.Arg14Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
R14S (p.Arg14Ser) 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.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- gnomAD 9-134642227-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.25
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available