G147A (p.Gly147Ala) variant of MMACHC (Q9Y4U1)
G147A (p.Gly147Ala) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Disorders of Intracellular Cobalamin Metabolism; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G147A (p.Gly147Ala) variant details
- p.Gly147Ala
- rs140522266
- ClinGen CA312732
- ClinVar RCV000186028
- ClinVar RCV000262040
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Disorders of Intracellular Cobalamin Metabolism; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.91
- CADD 23.30
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Disorders of Intracellular Cobalamin Me)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)