H40Y (p.His40Tyr) variant of MMUT (P22033)
H40Y (p.His40Tyr) in MMUT (P22033) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H40Y (p.His40Tyr) variant details
- p.His40Tyr
- rs774766479
- Ensembl rs774766479
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.63
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available