N403S (p.Asn403Ser) variant of MCCC2 (Q9HCC0)
N403S (p.Asn403Ser) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
N403S (p.Asn403Ser) variant details
- p.Asn403Ser
- rs142887940
- ClinGen CA3298063
- ClinVar RCV002003162
- ClinVar RCV003227056
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 0.51
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methy)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the REMAINING population (allele frequency 0.00046)
- Structural context available