K124E (p.Lys124Glu) variant of MMUT (P22033)
K124E (p.Lys124Glu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K124E (p.Lys124Glu) variant details
- p.Lys124Glu
- ExAC rs774922902
- gnomAD rs774922902
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.78
- CADD 27.40
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available