E140G (p.Glu140Gly) variant of PCDH19 (Protocadherin-19)
E140G (p.Glu140Gly) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
E140G (p.Glu140Gly) variant details
- p.Glu140Gly
- rs1928460473
- ClinGen CA414009780
- ClinVar RCV001066474
- Ensembl rs1928460473
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available