S11C (p.Ser11Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
S11C (p.Ser11Cys) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S11C (p.Ser11Cys) variant details
- p.Ser11Cys
- gnomAD 9-134642218-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.22
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available