L59M (p.Leu59Met) variant of EPAS1 (Q99814)
L59M (p.Leu59Met) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L59M (p.Leu59Met) variant details
- p.Leu59Met
- TOPMed rs1329545903
- gnomAD rs1329545903
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- MetaLR 0.17
- MetaSVM -0.77
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available