D107R (p.Asp107Arg) variant of PIK3CD (O00329)
D107R (p.Asp107Arg) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
D107R (p.Asp107Arg) variant details
- p.Asp107Arg
- rs2524805817
- ClinVar RCV004560507
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available