G537R (p.Gly537Arg) variant of EPAS1 (Q99814)
G537R (p.Gly537Arg) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Erythrocytosis, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G537R (p.Gly537Arg) variant details
- p.Gly537Arg
- rs137853036
- ClinGen CA118291
- ClinVar RCV000006842
- ClinVar RCV001532400
- Pathogenic
- not provided; Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.55
- AlphaMissense 0.95
- MetaLR 0.29
- MetaSVM -0.49
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Erythrocytosis, familial, 4)
- EBI: Pathogenic (in ECYT4)
- UniProt: Pathogenic (in ECYT4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. (PMID 18378852)
- Cited in: Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the… (PMID 19208626)