G147S (p.Gly147Ser) variant of MMACHC (Q9Y4U1)
G147S (p.Gly147Ser) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G147S (p.Gly147Ser) variant details
- p.Gly147Ser
- rs1553162901
- ClinGen CA827760
- ClinVar RCV002030936
- Ensembl rs1553162901
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.88
- AlphaMissense 0.60
- MetaLR 0.90
- MetaSVM 0.92
- CADD 23.50
- PolyPhen-2 0.25
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Likely pathogenic (in MAHCC)
- UniProt: Likely pathogenic (in MAHCC)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)