L53P (p.Leu53Pro) variant of MMACHC (Q9Y4U1)
L53P (p.Leu53Pro) 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; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- rs756980496
- ClinGen CA827654
- ClinVar RCV000585794
- ClinVar RCV003323623
- Conflicting interpretations
- not specified; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.98
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. (PMID 29302025)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)