H122N (p.His122Asn) variant of MMACHC (Q9Y4U1)
H122N (p.His122Asn) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H122N (p.His122Asn) variant details
- p.His122Asn
- rs372918203
- ClinGen CA827717
- ClinVar RCV000673415
- ClinVar RCV004689848
- Conflicting interpretations
- not specified; not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.89
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cobalamin C disease)
- EBI: Variant of uncertain significance (in MAHCC)
- UniProt: Uncertain significance (in MAHCC)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)