E31V (p.Glu31Val) variant of PCDH19 (Protocadherin-19)
E31V (p.Glu31Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- rs1064795834
- ClinGen CA16621152
- ClinVar RCV000485018
- Ensembl rs1064795834
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available