K48E (p.Lys48Glu) variant of MMUT (P22033)
K48E (p.Lys48Glu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD rs1277361146
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.36
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available