E366K (p.Glu366Lys) variant of MCCC1 (Q96RQ3)
E366K (p.Glu366Lys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E366K (p.Glu366Lys) variant details
- p.Glu366Lys
- rs201386261
- UniProt VAR 077288
- 1000Genomes rs201386261
- ExAC rs201386261
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.81
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.07
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance (in MCC1D)
- UniProt: Uncertain significance (in MCC1D)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC… (PMID 25382614)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)