E7K (p.Glu7Lys) variant of MMACHC (Q9Y4U1)
E7K (p.Glu7Lys) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cobalamin C disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs377405910
- ClinGen CA827598
- ClinVar RCV001250055
- ClinVar RCV006279511
- Conflicting interpretations
- Cobalamin C disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Cobalamin C disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)