A23E (p.Ala23Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
A23E (p.Ala23Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- gnomAD 2-227164794-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.31
- CADD 16.20
- PolyPhen-2 0.56
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available