H172Y (p.His172Tyr) variant of ABCC4 (O15439)
H172Y (p.His172Tyr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
H172Y (p.His172Tyr) variant details
- p.His172Tyr
- ExAC rs760103969
- gnomAD rs760103969
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 28.50
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)