A75T (p.Ala75Thr) variant of ABCC4 (O15439)
A75T (p.Ala75Thr) 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 0.51 / 1. The record also includes population frequency data.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- rs942624721
- ClinGen CA254234077
- ClinVar RCV004420267
- TOPMed rs942624721
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 8.42
- PolyPhen-2 0.07
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)