C87S (p.Cys87Ser) variant of ABCC4 (O15439)
C87S (p.Cys87Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
C87S (p.Cys87Ser) variant details
- p.Cys87Ser
- TOPMed rs1057376139
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 26.00
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 6e-05)