A26S (p.Ala26Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
A26S (p.Ala26Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 2-227164802-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- CADD 7.48
- PolyPhen-2 0.03
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available