V102M (p.Val102Met) variant of PIK3CD (O00329)
V102M (p.Val102Met) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V102M (p.Val102Met) variant details
- p.Val102Met
- rs1647296006
- ClinGen CA338300302
- ClinVar RCV002006190
- ClinVar RCV006458851
- Uncertain significance
- Immunodeficiency 14; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.52
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 14; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)