A24E (p.Ala24Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
A24E (p.Ala24Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- gnomAD 2-227164797-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.23
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available