R52H (p.Arg52His) variant of PIK3CD (O00329)
R52H (p.Arg52His) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- rs772851443
- ClinGen CA576803
- ClinVar RCV001240551
- ClinVar RCV004812390
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)