T139M (p.Thr139Met) variant of ABCC4 (O15439)
T139M (p.Thr139Met) in ABCC4 (O15439) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
T139M (p.Thr139Met) variant details
- p.Thr139Met
- rs765741241
- ExAC rs765741241
- TOPMed rs765741241
- gnomAD rs765741241
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 15.80
- PolyPhen-2 0.07
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)