H14Q (p.His14Gln) variant of MMUT (P22033)
H14Q (p.His14Gln) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H14Q (p.His14Gln) variant details
- p.His14Gln
- TOPMed rs1767781874
- gnomAD rs1767781874
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available