P23T (p.Pro23Thr) variant of COL4A5 (Collagen alpha-5(IV) chain)
P23T (p.Pro23Thr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- gnomAD X-108440192-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.41
- MetaLR 0.38
- MetaSVM -0.62
- CADD 21.10
- PolyPhen-2 0.25
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available