G16G (p.Gly16Gly) variant of COL5A1 (Collagen alpha-1(V) chain)
G16G (p.Gly16Gly) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G16G (p.Gly16Gly) variant details
- p.Gly16Gly
- gnomAD 9-134642235-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available