R38S (p.Arg38Ser) variant of PIK3CD (O00329)
R38S (p.Arg38Ser) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- rs765729544
- ClinGen CA338299592
- ClinVar RCV003743217
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.83
- PolyPhen-2 0.07
- SIFT 0.11
- EVE 0.21
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)