W24L (p.Trp24Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
W24L (p.Trp24Leu) 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 0.51 / 1. The record also includes population frequency data and structural context.
W24L (p.Trp24Leu) variant details
- p.Trp24Leu
- TOPMed rs1201925443
- gnomAD rs1201925443
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.11
- SIFT 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available