A12A (p.Ala12Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
A12A (p.Ala12Ala) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 9-134642223-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available