R77W (p.Arg77Trp) variant of PCCA (P05165)
R77W (p.Arg77Trp) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R77W (p.Arg77Trp) variant details
- p.Arg77Trp
- rs141371306
- ClinGen CA7033140
- ClinVar RCV000665579
- UniProt VAR 009088
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.10
- 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 REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel… (PMID 10101253)
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)