Q131L (p.Gln131Leu) variant of MMUT (P22033)
Q131L (p.Gln131Leu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q131L (p.Gln131Leu) variant details
- p.Gln131Leu
- ExAC rs760054029
- gnomAD rs760054029
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available