M535V (p.Met535Val) variant of EPAS1 (Q99814)
M535V (p.Met535Val) 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 0.93 / 1. The record also includes published literature and structural context.
M535V (p.Met535Val) variant details
- p.Met535Val
- rs137853037
- ClinGen CA118292
- ClinVar RCV000006843
- UniProt VAR 067360
- Pathogenic
- Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.86
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (Erythrocytosis, familial, 4)
- EBI: Pathogenic (in ECYT4)
- UniProt: Pathogenic (in ECYT4)
- 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)