R77Q (p.Arg77Gln) variant of PCCA (P05165)
R77Q (p.Arg77Gln) in PCCA (P05165) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- rs1387778734
- ClinGen CA388693074
- ClinVar RCV000778383
- TOPMed rs1387778734
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)