A17A (p.Ala17Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
A17A (p.Ala17Ala) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- gnomAD 9-134642238-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 11.20
- Population evidence available
- Structural context available
- Literature evidence available