W26C (p.Trp26Cys) variant of ABCC4 (O15439)
W26C (p.Trp26Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
W26C (p.Trp26Cys) variant details
- p.Trp26Cys
- ExAC rs765931057
- gnomAD rs765931057
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)