S49S (p.Ser49Ser) variant of EPAS1 (Q99814)
S49S (p.Ser49Ser) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S49S (p.Ser49Ser) variant details
- p.Ser49Ser
- rs1300772813
- gnomAD 2-46346993-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available