A6T (p.Ala6Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
A6T (p.Ala6Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 2-227164742-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.15
- CADD 8.95
- PolyPhen-2 0.10
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available