R87W (p.Arg87Trp) variant of PIK3CD (O00329)
R87W (p.Arg87Trp) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R87W (p.Arg87Trp) variant details
- p.Arg87Trp
- rs768486795
- ClinGen CA17773395
- cosmic curated COSV10969
- ClinVar RCV001312599
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.67
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)