A44S (p.Ala44Ser) variant of MCCC1 (Q96RQ3)
A44S (p.Ala44Ser) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- rs201216516
- ClinGen CA2719206
- ClinVar RCV001144093
- ClinVar RCV002557071
- Uncertain significance
- not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.25
- CADD 4.96
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.071)
- 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)