V56M (p.Val56Met) variant of MMADHC (Q9H3L0)
V56M (p.Val56Met) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Disorders of Intracellular Cobalamin Metabolism; Methylmalonic aciduria and homo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V56M (p.Val56Met) variant details
- p.Val56Met
- rs1682767724
- ClinGen CA348870933
- ClinVar RCV001128925
- ClinVar RCV001128926
- Uncertain significance
- Disorders of Intracellular Cobalamin Metabolism; Methylmalonic aciduria and homo
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.63
- CADD 22.60
- ClinVar: Uncertain significance (Disorders of Intracellular Cobalamin Metabolism; Methylmalonic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)