R108H (p.Arg108His) variant of PIK3CD (O00329)
R108H (p.Arg108His) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R108H (p.Arg108His) variant details
- p.Arg108His
- ExAC rs765031777
- TOPMed rs765031777
- gnomAD rs765031777
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.30
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available