A48T (p.Ala48Thr) variant of PIK3R1 (P27986)
A48T (p.Ala48Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- cosmic curated COSV10585
- ExAC rs774143442
- TOPMed rs774143442
- gnomAD rs774143442
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.30
- SIFT 0.03
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available