G156S (p.Gly156Ser) variant of MMACHC (Q9Y4U1)
G156S (p.Gly156Ser) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G156S (p.Gly156Ser) variant details
- p.Gly156Ser
- rs768353633
- ClinGen CA827770
- ClinVar RCV001991647
- ExAC rs768353633
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Likely pathogenic (in MAHCC)
- UniProt: Likely pathogenic (in MAHCC)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)