N189S (p.Asn189Ser) variant of MMUT (P22033)
N189S (p.Asn189Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. 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.
N189S (p.Asn189Ser) variant details
- p.Asn189Ser
- rs200908035
- ClinGen CA3847090
- ClinVar RCV000642163
- ClinVar RCV001391324
- Conflicting interpretations
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)