P534L (p.Pro534Leu) variant of EPAS1 (Q99814)
P534L (p.Pro534Leu) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Erythrocytosis, familial, 4. The record also includes published literature and structural context.
P534L (p.Pro534Leu) variant details
- p.Pro534Leu
- rs2546476675
- ClinGen CA346704479
- ClinVar RCV003615814
- UniProt VAR 067358
- Likely pathogenic
- Erythrocytosis, familial, 4
- Missense
- ClinVar: Likely pathogenic (Erythrocytosis, familial, 4)
- EBI: Pathogenic (in ECYT4)
- UniProt: Pathogenic (in ECYT4)
- Structural context available
- Cited in: Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the… (PMID 19208626)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)