N75S (p.Asn75Ser) variant of PCDH19 (Protocadherin-19)
N75S (p.Asn75Ser) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Developmental and epileptic encephalopathy, 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- rs796052790
- ClinGen CA316233
- ClinVar RCV000188327
- ClinVar RCV000764882
- Uncertain significance
- not specified; Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not specified; Developmental and epileptic encephalopathy, 9; no)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 7.6e-05)
- Structural context available