I430L (p.Ile430Leu) variant of PCCB (P05166)
I430L (p.Ile430Leu) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I430L (p.Ile430Leu) variant details
- p.Ile430Leu
- rs1935354676
- UniProt VAR 023855
- TOPMed rs1935354676
- gnomAD rs1935354676
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 28.30
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and… (PMID 12189489)
- Cited in: Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253.… (PMID 10447268)