R83Q (p.Arg83Gln) variant of MECOM (Q03112)
R83Q (p.Arg83Gln) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
R83Q (p.Arg83Gln) variant details
- p.Arg83Gln
- ExAC rs773873557
- TOPMed rs773873557
- gnomAD rs773873557
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)