G16S (p.Gly16Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
G16S (p.Gly16Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- gnomAD 9-134642233-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.25
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available