P78S (p.Pro78Ser) variant of ABCC4 (O15439)
P78S (p.Pro78Ser) 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.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- 1000Genomes rs11568689
- ExAC rs11568689
- TOPMed rs11568689
- gnomAD rs11568689
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)