G16C (p.Gly16Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
G16C (p.Gly16Cys) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 9-134642233-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.33
- CADD 20.70
- PolyPhen-2 0.09
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available