S19R (p.Ser19Arg) variant of PIK3CD (O00329)
S19R (p.Ser19Arg) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- ESP rs376606452
- ExAC rs376606452
- TOPMed rs376606452
- gnomAD rs376606452
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0675
- REVEL 0.04
- CADD 7.33
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available