D51H (p.Asp51His) variant of ABCC4 (O15439)
D51H (p.Asp51His) in ABCC4 (O15439) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
D51H (p.Asp51His) variant details
- p.Asp51His
- ExAC rs747434414
- TOPMed rs747434414
- gnomAD rs747434414
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)