R108C (p.Arg108Cys) variant of PIK3CD (O00329)
R108C (p.Arg108Cys) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- rs1205317546
- ClinGen CA338300341
- ClinVar RCV001822704
- ClinVar RCV002542681
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.30
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)