M535T (p.Met535Thr) variant of EPAS1 (Q99814)
M535T (p.Met535Thr) 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 0.89 / 1. The record also includes published literature and structural context.
M535T (p.Met535Thr) variant details
- p.Met535Thr
- rs2103672173
- ClinGen CA346704483
- ClinVar RCV002273011
- ClinVar RCV006274338
- Pathogenic
- not provided; Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.50
- ClinVar: Pathogenic (not provided; Erythrocytosis, familial, 4)
- EBI: Pathogenic (in ECYT4)
- UniProt: Pathogenic (in ECYT4)
- Structural context available
- Cited in: Two new mutations in the HIF2A gene associated with erythrocytosis. (PMID 22367913)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)