P125H (p.Pro125His) variant of ABCC4 (O15439)
P125H (p.Pro125His) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
P125H (p.Pro125His) variant details
- p.Pro125His
- TOPMed rs1412793072
- gnomAD rs1412793072
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)