C99S (p.Cys99Ser) variant of PCDH19 (Protocadherin-19)
C99S (p.Cys99Ser) 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 0.58 / 1. The record also includes structural context.
C99S (p.Cys99Ser) variant details
- p.Cys99Ser
- rs1064795237
- ClinGen CA16621150
- ClinVar RCV000485618
- Ensembl rs1064795237
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available