R47* (p.Arg47Ter) variant of PCDH19 (Protocadherin-19)
R47* (p.Arg47Ter) 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.
R47* (p.Arg47Ter) variant details
- p.Arg47Ter
- rs762069884
- ClinGen CA414011292
- ClinVar RCV003384296
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.19
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.82
- SIFT 0.07
- MutPred 0.53
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available