R49T (p.Arg49Thr) variant of PIK3R1 (P27986)
R49T (p.Arg49Thr) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
R49T (p.Arg49Thr) variant details
- p.Arg49Thr
- TOPMed rs1311708045
- gnomAD rs1311708045
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.10
- SIFT 0.26
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available