L355F (p.Leu355Phe) variant of MCCC2 (Q9HCC0)
L355F (p.Leu355Phe) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L355F (p.Leu355Phe) variant details
- p.Leu355Phe
- rs757052602
- ClinGen CA312689
- ClinVar RCV000186003
- ClinVar RCV000525215
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.94
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficien)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available
- Cited in: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. (PMID 21071250)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)