L59R (p.Leu59Arg) variant of MMUT (P22033)
L59R (p.Leu59Arg) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L59R (p.Leu59Arg) variant details
- p.Leu59Arg
- ExAC rs759122913
- gnomAD rs759122913
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.77
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available