N125S (p.Asn125Ser) variant of PCDH19 (Protocadherin-19)
N125S (p.Asn125Ser) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
N125S (p.Asn125Ser) variant details
- p.Asn125Ser
- rs398123603
- ClinGen CA221632
- ClinVar RCV000079608
- ClinVar RCV001064429
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.60
- MetaLR 0.28
- MetaSVM -0.17
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.67
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available