D14N (p.Asp14Asn) variant of MMACHC (Q9Y4U1)
D14N (p.Asp14Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- rs563710045
- ClinGen CA827605
- ClinVar RCV000706168
- ClinVar RCV003928175
- Conflicting interpretations
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Cobalamin C disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)