Q132R (p.Gln132Arg) variant of MMUT (P22033)
Q132R (p.Gln132Arg) in MMUT (P22033) 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 0.58 / 1. The record also includes population frequency data and structural context.
Q132R (p.Gln132Arg) variant details
- p.Gln132Arg
- ExAC rs766605891
- gnomAD rs766605891
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.64
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available