E135* (p.Glu135Ter) variant of PCDH19 (Protocadherin-19)
E135* (p.Glu135Ter) 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 structural context.
E135* (p.Glu135Ter) variant details
- p.Glu135Ter
- rs759398718
- ClinGen CA414009854
- ClinVar RCV001233401
- ExAC rs759398718
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.24
- MetaLR 0.04
- MetaSVM -1.09
- PolyPhen-2 0.98
- SIFT 0.09
- EVE 0.18
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available