N123K (p.Asn123Lys) variant of PCDH19 (Protocadherin-19)
N123K (p.Asn123Lys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Developmental and epileptic encephalopathy, 9; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
N123K (p.Asn123Lys) variant details
- p.Asn123Lys
- rs796052796
- ClinGen CA316287
- ClinVar RCV000188346
- ClinVar RCV003621514
- Pathogenic/Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 9; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 9; Sei)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available