L317F (p.Leu317Phe) variant of MCCC2 (Q9HCC0)
L317F (p.Leu317Phe) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data and structural context.
L317F (p.Leu317Phe) variant details
- p.Leu317Phe
- ExAC rs746451536
- gnomAD rs746451536
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.80
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Methylcrotonyl-CoA carboxylase deficien)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available