N28S (p.Asn28Ser) variant of ABCC4 (O15439)
N28S (p.Asn28Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- gnomAD rs1176985764
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 23.30
- PolyPhen-2 0.72
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)