K128R (p.Lys128Arg) variant of MMUT (P22033)
K128R (p.Lys128Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K128R (p.Lys128Arg) variant details
- p.Lys128Arg
- rs1265485739
- ClinGen CA364404857
- ClinVar RCV004475312
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.52
- CADD 24.40
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available