I53T (p.Ile53Thr) variant of PIK3R1 (P27986)
I53T (p.Ile53Thr) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 36 with lymphoproliferation; Agammaglo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- rs1561258129
- ClinGen CA359979702
- ClinVar RCV004505884
- ClinVar RCV006564807
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 36 with lymphoproliferation; Agammaglo
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.28
- CADD 26.00
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 36 with lymphoprolifer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)