S54R (p.Ser54Arg) variant of MMACHC (Q9Y4U1)
S54R (p.Ser54Arg) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- rs750127773
- ClinGen CA827656
- ClinVar RCV001989721
- ClinVar RCV004801104
- Uncertain significance
- not specified; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.93
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Cobalamin C disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)