R66S (p.Arg66Ser) variant of PIK3R1 (P27986)
R66S (p.Arg66Ser) 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; Immunodeficiency 36 with lymphoprolif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R66S (p.Arg66Ser) variant details
- p.Arg66Ser
- ExAC rs766811997
- TOPMed rs766811997
- gnomAD rs766811997
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoprolif
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available