S54G (p.Ser54Gly) variant of MMACHC (Q9Y4U1)
S54G (p.Ser54Gly) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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 and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- TOPMed rs1643643021
- gnomAD rs1643643021
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.87
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available