N74S (p.Asn74Ser) variant of PIK3CD (O00329)
N74S (p.Asn74Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N74S (p.Asn74Ser) variant details
- p.Asn74Ser
- rs1043386158
- ClinGen CA17773325
- ClinVar RCV001237606
- ClinVar RCV005410929
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.27
- CADD 22.00
- PolyPhen-2 0.31
- SIFT 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)