R444H (p.Arg444His) variant of MCCC1 (Q96RQ3)
R444H (p.Arg444His) in MCCC1 (Q96RQ3) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R444H (p.Arg444His) variant details
- p.Arg444His
- rs768785753
- ClinGen CA312677
- ClinVar RCV000808142
- ClinVar RCV001275506
- Pathogenic/Likely pathogenic
- not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methy)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC… (PMID 25382614)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)