P71R (p.Pro71Arg) variant of ITGA2B (Integrin alpha-IIb)
P71R (p.Pro71Arg) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The record also includes structural context.
P71R (p.Pro71Arg) variant details
- p.Pro71Arg
- rs2510085546
- ClinGen CA399806497
- ClinVar RCV003234996
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available