I138N (p.Ile138Asn) variant of PCDH19 (Protocadherin-19)
I138N (p.Ile138Asn) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
I138N (p.Ile138Asn) variant details
- p.Ile138Asn
- rs1602637994
- ClinGen CA414009809
- ClinVar RCV000809475
- Ensembl rs1602637994
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.99
- MetaLR 0.49
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available