Y55C (p.Tyr55Cys) variant of PIK3CD (O00329)
Y55C (p.Tyr55Cys) 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 0.36 / 1. The record also includes published literature and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- rs576937504
- ClinGen CA338299866
- ClinVar RCV003018636
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.82
- PolyPhen-2 0.85
- SIFT 0.16
- EVE 0.19
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)