W2C (p.Trp2Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
W2C (p.Trp2Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
W2C (p.Trp2Cys) variant details
- p.Trp2Cys
- gnomAD rs1382380215
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.23
- AlphaMissense 0.14
- MetaLR 0.35
- MetaSVM -0.78
- CADD 6.28
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available