N403T (p.Asn403Thr) variant of MCCC2 (Q9HCC0)
N403T (p.Asn403Thr) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N403T (p.Asn403Thr) variant details
- p.Asn403Thr
- rs142887940
- ClinGen CA359994654
- ClinVar RCV002624342
- UniProt VAR 072530
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.94
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)