C171G (p.Cys171Gly) variant of ABCC4 (O15439)
C171G (p.Cys171Gly) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
C171G (p.Cys171Gly) variant details
- p.Cys171Gly
- rs4148460
- UniProt VAR 046446
- ExAC rs4148460
- gnomAD rs4148460
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 28.40
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)