T5A (p.Thr5Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
T5A (p.Thr5Ala) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 2-227164739-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.17
- CADD 1.69
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available