N41S (p.Asn41Ser) variant of PCDH19 (Protocadherin-19)
N41S (p.Asn41Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- rs2147542647
- ClinGen CA414011328
- ClinVar RCV002028165
- Ensembl rs2147542647
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.26
- CADD 23.80
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available