H122Q (p.His122Gln) variant of MMACHC (Q9Y4U1)
H122Q (p.His122Gln) 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 0.84 / 1. The record also includes published literature and structural context.
H122Q (p.His122Gln) variant details
- p.His122Gln
- rs1643666556
- ClinGen CA340132266
- ClinVar RCV002041245
- NCI-TCGA TCGA novel
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.90
- MetaLR 0.94
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- 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)