Y100C (p.Tyr100Cys) variant of MMUT (P22033)
Y100C (p.Tyr100Cys) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y100C (p.Tyr100Cys) variant details
- p.Tyr100Cys
- rs864309735
- ClinGen CA347866
- ClinVar RCV000203328
- ClinVar RCV001384466
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic acidemia)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of… (PMID 17113806)
- Cited in: Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT)… (PMID 25125334)