D90G (p.Asp90Gly) variant of PCDH19 (Protocadherin-19)
D90G (p.Asp90Gly) 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 0.45 / 1. The record also includes structural context.
D90G (p.Asp90Gly) variant details
- p.Asp90Gly
- rs2147542320
- ClinGen CA414010933
- ClinVar RCV002000444
- Ensembl rs2147542320
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.81
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available