V434L (p.Val434Leu) variant of MCCC2 (Q9HCC0)
V434L (p.Val434Leu) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V434L (p.Val434Leu) variant details
- p.Val434Leu
- rs758506791
- ClinGen CA3298101
- ClinVar RCV001339747
- ClinVar RCV002292631
- Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Population evidence available
- 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)