E10D (p.Glu10Asp) variant of PIK3CD (O00329)
E10D (p.Glu10Asp) 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; Inborn genetic diseases; PIK3CD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- rs867168019
- ClinGen CA17769102
- ClinVar RCV003076788
- ClinVar RCV003404045
- Uncertain significance
- Immunodeficiency 14; Inborn genetic diseases; PIK3CD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.17
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 14; Inborn genetic diseases; PIK3CD-related dis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)