K49R (p.Lys49Arg) variant of MMUT (P22033)
K49R (p.Lys49Arg) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- TOPMed rs1438206722
- gnomAD rs1438206722
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.39
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available