Q50H (p.Gln50His) variant of MMUT (P22033)
Q50H (p.Gln50His) 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 0.45 / 1. The record also includes population frequency data and structural context.
Q50H (p.Gln50His) variant details
- p.Gln50His
- rs368296765
- ClinGen CA3847177
- ClinVar RCV002890661
- ESP rs368296765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.58
- CADD 21.00
- PolyPhen-2 0.28
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available