N66S (p.Asn66Ser) variant of PCDH19 (Protocadherin-19)
N66S (p.Asn66Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
N66S (p.Asn66Ser) variant details
- p.Asn66Ser
- rs1357065341
- ClinGen CA414011176
- ClinVar RCV003047402
- gnomAD rs1357065341
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.16
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available