R76K (p.Arg76Lys) variant of MMUT (P22033)
R76K (p.Arg76Lys) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R76K (p.Arg76Lys) variant details
- p.Arg76Lys
- rs1252414363
- ClinGen CA364405286
- ClinVar RCV001315666
- ClinVar RCV001835563
- Uncertain significance
- not specified; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.23
- CADD 11.10
- ClinVar: Uncertain significance (not specified; not provided; Methylmalonic aciduria due to methy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)