D51N (p.Asp51Asn) variant of ABCC4 (O15439)
D51N (p.Asp51Asn) 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 0.77 / 1. The record also includes population frequency data.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- ExAC rs747434414
- TOPMed rs747434414
- gnomAD rs747434414
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 24.60
- PolyPhen-2 0.95
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)