D90H (p.Asp90His) variant of PCDH19 (Protocadherin-19)
D90H (p.Asp90His) 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 0.48 / 1. The record also includes structural context.
D90H (p.Asp90His) variant details
- p.Asp90His
- rs1555985780
- ClinGen CA414010941
- ClinVar RCV000529603
- Ensembl rs1555985780
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.99
- MetaLR 0.20
- MetaSVM -0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available