S67W (p.Ser67Trp) variant of PCDH19 (Protocadherin-19)
S67W (p.Ser67Trp) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
S67W (p.Ser67Trp) variant details
- p.Ser67Trp
- rs868762744
- ClinGen CA414011168
- ClinVar RCV002275666
- Ensembl rs868762744
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- 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
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available