G18R (p.Gly18Arg) variant of PCCA (P05165)
G18R (p.Gly18Arg) 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.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs779286461
- ExAC rs779286461
- TOPMed rs779286461
- gnomAD rs779286461
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0014)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)