N41H (p.Asn41His) variant of PIK3CD (O00329)
N41H (p.Asn41His) 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 0.37 / 1. The record also includes published literature and structural context.
N41H (p.Asn41His) variant details
- p.Asn41His
- rs1647005150
- ClinGen CA338299610
- ClinVar RCV001213349
- Ensembl rs1647005150
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.09
- MetaLR 0.29
- MetaSVM -0.33
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.17
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)