P12S (p.Pro12Ser) variant of ABCC4 (O15439)
P12S (p.Pro12Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- TOPMed rs1303926555
- gnomAD rs1303926555
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 26.20
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)