S46G (p.Ser46Gly) variant of EPAS1 (Q99814)
S46G (p.Ser46Gly) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S46G (p.Ser46Gly) variant details
- p.Ser46Gly
- gnomAD 2-46346982-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.15
- CADD 24.00
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available