T62I (p.Thr62Ile) variant of PIK3R1 (P27986)
T62I (p.Thr62Ile) 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 0.29 / 1. The record also includes published literature and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- rs1744294827
- ClinGen CA359979765
- ClinVar RCV001203218
- Ensembl rs1744294827
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.16
- MetaLR 0.02
- MetaSVM -0.94
- PolyPhen-2 0.85
- SIFT 0.01
- EVE 0.15
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)