R38L (p.Arg38Leu) variant of PIK3CD (O00329)
R38L (p.Arg38Leu) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- rs761349863
- ClinGen CA338299595
- ClinVar RCV003042365
- ClinVar RCV005254671
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.30
- SIFT 0.24
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)