D532H (p.Asp532His) variant of MCCC1 (Q96RQ3)
D532H (p.Asp532His) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
D532H (p.Asp532His) variant details
- p.Asp532His
- rs119103214
- ClinGen CA251976
- ClinVar RCV000002008
- UniProt VAR 012790
- Pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.45
- MetaLR 0.88
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)