D51Y (p.Asp51Tyr) variant of ABCC4 (O15439)
D51Y (p.Asp51Tyr) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- rs747434414
- ClinGen CA388403366
- ClinVar RCV004420244
- ExAC rs747434414
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)