E31K (p.Glu31Lys) variant of PCDH19 (Protocadherin-19)
E31K (p.Glu31Lys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs796052794
- ClinGen CA414011397
- ClinVar RCV000700933
- Ensembl rs796052794
- Pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available