G66R (p.Gly66Arg) variant of MMUT (P22033)
G66R (p.Gly66Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs780214259
- ClinGen CA3847166
- ClinVar RCV004475008
- ClinVar RCV005610671
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.87
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available