I112S (p.Ile112Ser) variant of PCDH19 (Protocadherin-19)
I112S (p.Ile112Ser) 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 0.47 / 1. The record also includes structural context.
I112S (p.Ile112Ser) variant details
- p.Ile112Ser
- rs2147542128
- ClinGen CA414010547
- ClinVar RCV001902448
- Ensembl rs2147542128
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.98
- MetaLR 0.26
- MetaSVM -0.47
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available