I39L (p.Ile39Leu) variant of PCDH19 (Protocadherin-19)
I39L (p.Ile39Leu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The record also includes structural context.
I39L (p.Ile39Leu) variant details
- p.Ile39Leu
- rs2520998383
- ClinGen CA414011345
- ClinVar RCV003039823
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available