E987D (p.Glu987Asp) variant of PIK3CB (P42338)
E987D (p.Glu987Asp) in PIK3CB (P42338) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NK-cell enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
E987D (p.Glu987Asp) variant details
- p.Glu987Asp
- rs1577033077
- ClinGen CA354687755
- ClinVar RCV000791315
- Ensembl rs1577033077
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.94
- MetaLR 0.35
- MetaSVM -0.35
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available