R108L (p.Arg108Leu) variant of PIK3CD (O00329)
R108L (p.Arg108Leu) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R108L (p.Arg108Leu) variant details
- p.Arg108Leu
- rs765031777
- ClinGen CA576828
- cosmic curated COSV63130
- ClinVar RCV000788952
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.25
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.12
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)