P7T (p.Pro7Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
P7T (p.Pro7Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 2-227164745-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.21
- CADD 9.75
- PolyPhen-2 0.01
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available