N11S (p.Asn11Ser) variant of ABCC4 (O15439)
N11S (p.Asn11Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- gnomAD rs1275748455
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 22.60
- PolyPhen-2 0.19
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)