R399Q (p.Arg399Gln) variant of PCCA (P05165)
R399Q (p.Arg399Gln) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R399Q (p.Arg399Gln) variant details
- p.Arg399Gln
- rs1301904623
- ClinGen CA388695372
- NCI-TCGA Cosmic COSV6619
- cosmic curated COSV66194
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.06
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)
- Cited in: Propionic Acidemia. (PMID 22593918)