G67E (p.Gly67Glu) variant of PIK3R1 (P27986)
G67E (p.Gly67Glu) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- rs1744296159
- ClinGen CA359979796
- ClinVar RCV001223412
- Ensembl rs1744296159
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)