D73E (p.Asp73Glu) variant of PCDH19 (Protocadherin-19)
D73E (p.Asp73Glu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Periventricular nodular heterotopia and epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- rs1928472700
- ClinGen CA414011131
- ClinVar RCV001199410
- Ensembl rs1928472700
- Uncertain significance
- Periventricular nodular heterotopia and epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.34
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.01
- SIFT 0.39
- EVE 0.14
- ClinVar: Uncertain significance (Periventricular nodular heterotopia and epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available