W20R (p.Trp20Arg) variant of PCCA (P05165)
W20R (p.Trp20Arg) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
W20R (p.Trp20Arg) variant details
- p.Trp20Arg
- rs1302125451
- ClinGen CA388692683
- ClinVar RCV002026887
- TOPMed rs1302125451
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)