G537W (p.Gly537Trp) variant of EPAS1 (Q99814)
G537W (p.Gly537Trp) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Erythrocytosis, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G537W (p.Gly537Trp) variant details
- p.Gly537Trp
- rs137853036
- ClinGen CA118290
- ClinVar RCV000006841
- UniProt VAR 042443
- Pathogenic
- Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.95
- MetaLR 0.29
- MetaSVM -0.49
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Erythrocytosis, familial, 4)
- EBI: Pathogenic (in ECYT4)
- UniProt: Pathogenic (in ECYT4)
- Structural context available
- Cited in: A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. (PMID 18184961)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)