R93S (p.Arg93Ser) variant of MMUT (P22033)
R93S (p.Arg93Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. 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.
R93S (p.Arg93Ser) variant details
- p.Arg93Ser
- rs746274670
- ClinGen CA364405093
- ClinVar RCV001029829
- ClinVar RCV003541098
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)