G456V (p.Gly456Val) variant of PCCA (P05165)
G456V (p.Gly456Val) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G456V (p.Gly456Val) variant details
- p.Gly456Val
- rs2066766926
- ClinVar RCV004586322
- TOPMed rs2066766926
- gnomAD rs2066766926
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.08
- CADD 27.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)