R31Q (p.Arg31Gln) variant of MMUT (P22033)
R31Q (p.Arg31Gln) in MMUT (P22033) 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 0.47 / 1. The record also includes population frequency data and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs1220835332
- NCI-TCGA Cosmic COSV9922
- TOPMed rs1220835332
- gnomAD rs1220835332
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available