P127S (p.Pro127Ser) variant of PCDH19 (Protocadherin-19)
P127S (p.Pro127Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
P127S (p.Pro127Ser) variant details
- p.Pro127Ser
- rs1928462873
- ClinGen CA414010199
- ClinVar RCV001071976
- ClinVar RCV002512137
- Pathogenic/Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available