D124H (p.Asp124His) variant of PCDH19 (Protocadherin-19)
D124H (p.Asp124His) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
D124H (p.Asp124His) variant details
- p.Asp124His
- rs796052797
- ClinGen CA414010276
- ClinVar RCV001213098
- ClinVar RCV001819902
- Pathogenic
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available