P2L (p.Pro2Leu) variant of PIK3CD (O00329)
P2L (p.Pro2Leu) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs1257745660
- ClinGen CA338299362
- ClinVar RCV001213350
- ClinVar RCV005235533
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)