H14R (p.His14Arg) variant of MMUT (P22033)
H14R (p.His14Arg) 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 0.34 / 1. The record also includes population frequency data and structural context.
H14R (p.His14Arg) variant details
- p.His14Arg
- TOPMed rs886061561
- gnomAD rs886061561
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.24
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available