R399W (p.Arg399Trp) variant of PCCA (P05165)
R399W (p.Arg399Trp) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R399W (p.Arg399Trp) variant details
- p.Arg399Trp
- rs1234167788
- ClinGen CA388695371
- ClinVar RCV000820501
- TOPMed rs1234167788
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)