P224L (p.Pro224Leu) variant of MCCC2 (Q9HCC0)
P224L (p.Pro224Leu) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P224L (p.Pro224Leu) variant details
- p.Pro224Leu
- rs1195601465
- UniProt VAR 072521
- TOPMed rs1195601465
- gnomAD rs1195601465
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)