N73S (p.Asn73Ser) variant of ABCC4 (O15439)
N73S (p.Asn73Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
N73S (p.Asn73Ser) variant details
- p.Asn73Ser
- 1000Genomes rs556194310
- ExAC rs556194310
- TOPMed rs556194310
- gnomAD rs556194310
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)