N120S (p.Asn120Ser) variant of MMUT (P22033)
N120S (p.Asn120Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N120S (p.Asn120Ser) variant details
- p.Asn120Ser
- rs776108716
- ClinGen CA3847135
- ClinVar RCV001941413
- ClinVar RCV002484720
- Uncertain significance
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.86
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)