K14T (p.Lys14Thr) variant of PIK3CD (O00329)
K14T (p.Lys14Thr) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
K14T (p.Lys14Thr) variant details
- p.Lys14Thr
- rs1647002482
- ClinGen CA338299437
- ClinVar RCV001240756
- Ensembl rs1647002482
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.91
- PolyPhen-2 0.23
- SIFT 0.34
- EVE 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)