S262N (p.Ser262Asn) variant of MMUT (P22033)
S262N (p.Ser262Asn) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic acidemia; Methylmalonic aciduria due to methylmalonyl-CoA mutase d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S262N (p.Ser262Asn) variant details
- p.Ser262Asn
- rs1767683356
- ClinGen CA364402555
- ClinVar RCV002012981
- ClinVar RCV004587286
- Pathogenic/Likely pathogenic
- Methylmalonic acidemia; Methylmalonic aciduria due to methylmalonyl-CoA mutase d
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic acidemia; Methylmalonic aciduria due to methylmalo)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms… (PMID 15643616)
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)