R47G (p.Arg47Gly) variant of MCCC1 (Q96RQ3)
R47G (p.Arg47Gly) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R47G (p.Arg47Gly) variant details
- p.Arg47Gly
- rs142664377
- ClinGen CA2719188
- ClinVar RCV002283285
- ClinVar RCV003096355
- Uncertain significance
- not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.27
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inb)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)