Q18R (p.Gln18Arg) variant of MMUT (P22033)
Q18R (p.Gln18Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- rs372601759
- ClinGen CA3847186
- ClinVar RCV001243259
- ClinVar RCV001835161
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.24
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available