E48* (p.Glu48Ter) variant of PCDH19 (Protocadherin-19)
E48* (p.Glu48Ter) in PCDH19 (Protocadherin-19) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- rs132630326
- ClinGen CA121300
- ClinVar RCV000011767
- gnomAD rs132630326
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.22
- MetaLR 0.07
- MetaSVM -1.07
- PolyPhen-2 0.01
- SIFT 0.45
- MutPred 0.59
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects… (PMID 19214208)