L89R (p.Leu89Arg) variant of PIK3CD (O00329)
L89R (p.Leu89Arg) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L89R (p.Leu89Arg) variant details
- p.Leu89Arg
- rs2524804604
- ClinGen CA2582341889
- ClinVar RCV003333529
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available