C560Y (p.Cys560Tyr) variant of MMUT (P22033)
C560Y (p.Cys560Tyr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
C560Y (p.Cys560Tyr) variant details
- p.Cys560Tyr
- rs1238333040
- ClinGen CA364396180
- ClinVar RCV000670086
- UniProt VAR 026623
- Uncertain significance
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.92
- ClinVar: Uncertain significance (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Population evidence available
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)