I437V (p.Ile437Val) variant of MCCC2 (Q9HCC0)
I437V (p.Ile437Val) 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; 3-methylcrotonyl-CoA carboxylase 2 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I437V (p.Ile437Val) variant details
- p.Ile437Val
- rs119103224
- ClinGen CA251971
- ClinVar RCV000002002
- ClinVar RCV001723531
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.74
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. (PMID 14680978)