H190R (p.His190Arg) variant of MCCC2 (Q9HCC0)
H190R (p.His190Arg) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
H190R (p.His190Arg) variant details
- p.His190Arg
- rs119103225
- ClinGen CA251972
- ClinVar RCV000002003
- UniProt VAR 072515
- Pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.83
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Structural context available
- Cited in: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 17968484)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)