S67* (p.Ser67Ter) variant of PCDH19 (Protocadherin-19)
S67* (p.Ser67Ter) 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 0.44 / 1. The record also includes structural context.
S67* (p.Ser67Ter) variant details
- p.Ser67Ter
- rs868762744
- ClinGen CA414011169
- ClinVar RCV001092887
- ClinVar RCV005093464
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.75
- MetaLR 0.24
- MetaSVM -0.56
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.56
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available