G163R (p.Gly163Arg) variant of ABCC4 (O15439)
G163R (p.Gly163Arg) 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.
G163R (p.Gly163Arg) variant details
- p.Gly163Arg
- TOPMed rs1461269109
- gnomAD rs1461269109
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)