H190Y (p.His190Tyr) variant of MCCC2 (Q9HCC0)
H190Y (p.His190Tyr) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H190Y (p.His190Tyr) variant details
- p.His190Tyr
- rs773774134
- ClinGen CA275357
- ClinVar RCV000179523
- ClinVar RCV000185999
- Pathogenic/Likely pathogenic
- not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.97
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methy)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn… (PMID 16010683)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)