R3K (p.Arg3Lys) variant of MMUT (P22033)
R3K (p.Arg3Lys) 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.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- TOPMed rs1767783379
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available