R104C (p.Arg104Cys) variant of PIK3CD (O00329)
R104C (p.Arg104Cys) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs1315288471
- ClinGen CA338300316
- ClinVar RCV002583814
- TOPMed rs1315288471
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.55
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)