A44F (p.Ala44Phe) variant of MCCC1 (Q96RQ3)
A44F (p.Ala44Phe) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; 3-methylcrotonyl-CoA carboxylase 1 defici. The record also includes published literature and structural context.
A44F (p.Ala44Phe) variant details
- p.Ala44Phe
- rs1553868919
- ClinGen CA658657354
- ClinVar RCV000530709
- ClinVar RCV002275089
- Uncertain significance
- Inborn genetic diseases; not provided; 3-methylcrotonyl-CoA carboxylase 1 defici
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; 3-methylcrotonyl-CoA carb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)