G147D (p.Gly147Asp) variant of MMACHC (Q9Y4U1)
G147D (p.Gly147Asp) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G147D (p.Gly147Asp) variant details
- p.Gly147Asp
- rs140522266
- ClinGen CA312733
- ClinVar RCV000186029
- ClinVar RCV000586798
- Pathogenic/Likely pathogenic
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.95
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)
- Cited in: Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. (PMID 19700356)