R444C (p.Arg444Cys) variant of MCCC1 (Q96RQ3)
R444C (p.Arg444Cys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R444C (p.Arg444Cys) variant details
- p.Arg444Cys
- rs375996272
- ClinGen CA2718811
- cosmic curated COSV10454
- ClinVar RCV000493467
- Conflicting interpretations
- not specified; not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; 3-methylcrotonyl-CoA carboxylase 1)
- EBI: Likely pathogenic (in MCC1D)
- UniProt: Likely pathogenic (in MCC1D)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available