A9A (p.Ala9Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
A9A (p.Ala9Ala) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs1831313105
- gnomAD 9-134642214-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available