L85F (p.Leu85Phe) variant of MMUT (P22033)
L85F (p.Leu85Phe) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L85F (p.Leu85Phe) variant details
- p.Leu85Phe
- ExAC rs762507663
- TOPMed rs762507663
- gnomAD rs762507663
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available