W25C (p.Trp25Cys) variant of ABCC4 (O15439)
W25C (p.Trp25Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
W25C (p.Trp25Cys) variant details
- p.Trp25Cys
- gnomAD rs1454956307
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the East Asian population (allele frequency 0.00019)