p.Leu59 Arg65del variant of EPAS1 (Q99814)
p.Leu59 Arg65del in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu59 Arg65del variant details
- gnomAD 2-46347015-ATGCGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available