L27V (p.Leu27Val) variant of MMUT (P22033)
L27V (p.Leu27Val) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- ExAC rs765349557
- gnomAD rs765349557
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.18
- CADD 4.62
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available