S62S (p.Ser62Ser) variant of EPAS1 (Q99814)
S62S (p.Ser62Ser) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S62S (p.Ser62Ser) variant details
- p.Ser62Ser
- gnomAD 2-46347032-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 11.00
- Population evidence available
- Structural context available
- Literature evidence available