A23S (p.Ala23Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
A23S (p.Ala23Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 2-227164793-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.17
- CADD 13.30
- PolyPhen-2 0.10
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available