A103T (p.Ala103Thr) variant of PIK3CD (O00329)
A103T (p.Ala103Thr) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PIK3CD-related disorder; Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- rs1229729609
- ClinGen CA338300308
- cosmic curated COSV10074
- ClinVar RCV003404252
- Uncertain significance
- PIK3CD-related disorder; Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.09
- CADD 21.30
- PolyPhen-2 0.14
- SIFT 1.00
- ClinVar: Uncertain significance (PIK3CD-related disorder; Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)