P25T (p.Pro25Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
P25T (p.Pro25Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- gnomAD 2-227164799-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.19
- CADD 8.53
- PolyPhen-2 0.05
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available