G7R (p.Gly7Arg) variant of PCCA (P05165)
G7R (p.Gly7Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs1224457663
- TOPMed rs1224457663
- gnomAD rs1224457663
- ClinGen CA388692613
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 8.40
- PolyPhen-2 0.01
- SIFT 0.22
- 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)