L85V (p.Leu85Val) variant of MMUT (P22033)
L85V (p.Leu85Val) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L85V (p.Leu85Val) variant details
- p.Leu85Val
- ExAC rs762507663
- TOPMed rs762507663
- gnomAD rs762507663
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.44
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available