N219Y (p.Asn219Tyr) variant of MMUT (P22033)
N219Y (p.Asn219Tyr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N219Y (p.Asn219Tyr) variant details
- p.Asn219Tyr
- rs121918256
- ClinGen CA249731
- ClinVar RCV000001963
- ClinVar RCV000186055
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.98
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. (PMID 11350191)
- Cited in: N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. (PMID 11528502)