A23A (p.Ala23Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
A23A (p.Ala23Ala) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- gnomAD 2-227164795-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.88
- Population evidence available
- Structural context available
- Literature evidence available