S55S (p.Ser55Ser) variant of EPAS1 (Q99814)
S55S (p.Ser55Ser) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S55S (p.Ser55Ser) variant details
- p.Ser55Ser
- gnomAD 2-46347011-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available