I22T (p.Ile22Thr) variant of PIK3R1 (P27986)
I22T (p.Ile22Thr) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I22T (p.Ile22Thr) variant details
- p.Ile22Thr
- rs150689648
- ClinGen CA3289928
- cosmic curated COSV57126
- ClinVar RCV000535880
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.45
- CADD 26.60
- PolyPhen-2 0.93
- 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 9.9e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)