L59V (p.Leu59Val) variant of MMUT (P22033)
L59V (p.Leu59Val) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L59V (p.Leu59Val) variant details
- p.Leu59Val
- ExAC rs767154952
- TOPMed rs767154952
- gnomAD rs767154952
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.58
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available