H59Y (p.His59Tyr) variant of PCCB (P05166)
H59Y (p.His59Tyr) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H59Y (p.His59Tyr) variant details
- p.His59Tyr
- rs147954363
- ClinGen CA2631597
- ClinVar RCV002976218
- ESP rs147954363
- Uncertain significance
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.98
- MetaSVM 1.05
- CADD 27.90
- ClinVar: Uncertain significance (not provided; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0021)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)