A117P (p.Ala117Pro) variant of MMACHC (Q9Y4U1)
A117P (p.Ala117Pro) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A117P (p.Ala117Pro) variant details
- p.Ala117Pro
- rs752205161
- ClinGen CA827712
- ClinVar RCV000667746
- ExAC rs752205161
- Pathogenic/Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.85
- CADD 27.10
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)