Y439C (p.Tyr439Cys) variant of PCCB (P05166)
Y439C (p.Tyr439Cys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y439C (p.Tyr439Cys) variant details
- p.Tyr439Cys
- rs769521436
- ClinGen CA2632149
- ClinVar RCV000490483
- UniProt VAR 023857
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 31.00
- PolyPhen-2 1.00
- 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 0.00013)
- 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: Propionic Acidemia. (PMID 22593918)