I115K (p.Ile115Lys) variant of PCDH19 (Protocadherin-19)
I115K (p.Ile115Lys) 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 0.54 / 1. The record also includes structural context.
I115K (p.Ile115Lys) variant details
- p.Ile115Lys
- rs1928464417
- ClinGen CA414010483
- ClinVar RCV001210680
- Ensembl rs1928464417
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.10
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available