E32V (p.Glu32Val) variant of PCDH19 (Protocadherin-19)
E32V (p.Glu32Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PCDH19-related epilespy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
E32V (p.Glu32Val) variant details
- p.Glu32Val
- rs2147542709
- ClinGen CA414011386
- ClinVar RCV001822990
- Ensembl rs2147542709
- Likely pathogenic
- PCDH19-related epilespy
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.98
- MetaLR 0.51
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (PCDH19-related epilespy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available