L567P (p.Leu567Pro) variant of SPTA1 (P02549)
L567P (p.Leu567Pro) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spherocytosis type 3.
L567P (p.Leu567Pro) variant details
- p.Leu567Pro
- rs2525254041
- ClinGen CA343009073
- ClinVar RCV002291026
- Likely pathogenic
- Hereditary spherocytosis type 3
- Missense
- ClinVar: Likely pathogenic (Hereditary spherocytosis type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic