C560R (p.Cys560Arg) variant of MMUT (P22033)
C560R (p.Cys560Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C560R (p.Cys560Arg) variant details
- p.Cys560Arg
- rs1767289269
- ClinGen CA364396185
- ClinVar RCV001257419
- Ensembl rs1767289269
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)