Q7E (p.Gln7Glu) variant of MMUT (P22033)
Q7E (p.Gln7Glu) in MMUT (P22033) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- ExAC rs761773115
- TOPMed rs761773115
- gnomAD rs761773115
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.21
- CADD 13.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available