G147R (p.Gly147Arg) variant of MMACHC (Q9Y4U1)
G147R (p.Gly147Arg) 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 0.81 / 1. The record also includes published literature and structural context.
G147R (p.Gly147Arg) variant details
- p.Gly147Arg
- rs1553162901
- ClinGen CA340133002
- ClinVar RCV003032729
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.60
- MetaLR 0.90
- MetaSVM 0.92
- PolyPhen-2 0.25
- SIFT 0.03
- EVE 0.83
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Likely pathogenic (in MAHCC)
- UniProt: Likely pathogenic (in MAHCC)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)