N122S (p.Asn122Ser) variant of ABCC4 (O15439)
N122S (p.Asn122Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
N122S (p.Asn122Ser) variant details
- p.Asn122Ser
- ExAC rs750534208
- TOPMed rs750534208
- gnomAD rs750534208
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 8.67
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)