S262I (p.Ser262Ile) variant of MMUT (P22033)
S262I (p.Ser262Ile) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
S262I (p.Ser262Ile) variant details
- p.Ser262Ile
- rs1767683356
- ClinGen CA364402550
- ClinVar RCV001283794
- Ensembl rs1767683356
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- 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: Isolated Methylmalonic Acidemia. (PMID 20301409)