A3T (p.Ala3Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
A3T (p.Ala3Thr) 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.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 2-227164733-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.17
- CADD 6.26
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available