P15T (p.Pro15Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
P15T (p.Pro15Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 2-227164769-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.15
- CADD 8.62
- PolyPhen-2 0.00
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available