K54R (p.Lys54Arg) variant of MMUT (P22033)
K54R (p.Lys54Arg) 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; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- rs559152765
- ClinGen CA3847176
- ClinVar RCV001298109
- ClinVar RCV001830147
- Uncertain significance
- not specified; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not specified; not provided; Methylmalonic aciduria due to methy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)