E31* (p.Glu31Ter) variant of PCDH19 (Protocadherin-19)
E31* (p.Glu31Ter) 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 0.68 / 1. The record also includes population frequency data and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- rs796052794
- ClinGen CA316278
- ClinVar RCV000188342
- Ensembl rs796052794
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.36
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available