E51K (p.Glu51Lys) variant of PIK3R1 (P27986)
E51K (p.Glu51Lys) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia 7, autosomal re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs2111964278
- ClinGen CA359979681
- ClinVar RCV002304876
- Uncertain significance
- Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia 7, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.80
- ClinVar: Uncertain significance (Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)