R38P (p.Arg38Pro) variant of PIK3CD (O00329)
R38P (p.Arg38Pro) 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 0.56 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- ExAC rs761349863
- TOPMed rs761349863
- gnomAD rs761349863
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.51
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available