K120N (p.Lys120Asn) variant of PCDH19 (Protocadherin-19)
K120N (p.Lys120Asn) 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 0.32 / 1. The record also includes structural context.
K120N (p.Lys120Asn) variant details
- p.Lys120Asn
- rs1214373921
- ClinGen CA414010345
- ClinVar RCV002587010
- ClinGen CA414010347
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.62
- MetaLR 0.09
- MetaSVM -1.10
- PolyPhen-2 0.65
- SIFT 0.04
- EVE 0.22
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available