I231F (p.Ile231Phe) variant of MCCC2 (Q9HCC0)
I231F (p.Ile231Phe) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
I231F (p.Ile231Phe) variant details
- p.Ile231Phe
- rs531567604
- ClinGen CA3297842
- ClinVar RCV002031053
- 1000Genomes rs531567604
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.91
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available