C99Y (p.Cys99Tyr) variant of PCDH19 (Protocadherin-19)
C99Y (p.Cys99Tyr) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
C99Y (p.Cys99Tyr) variant details
- p.Cys99Tyr
- rs2147542235
- ClinGen CA414010805
- ClinVar RCV001784157
- ClinVar RCV004719174
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 9; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available