H172R (p.His172Arg) variant of ABCC4 (O15439)
H172R (p.His172Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
H172R (p.His172Arg) variant details
- p.His172Arg
- TOPMed rs1017849062
- gnomAD rs1017849062
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 26.70
- PolyPhen-2 0.70
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)