Y215H (p.Tyr215His) variant of MMACHC (Q9Y4U1)
Y215H (p.Tyr215His) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y215H (p.Tyr215His) variant details
- p.Tyr215His
- rs755843695
- ClinGen CA827820
- ClinVar RCV001323234
- ExAC rs755843695
- Pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.92
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)