S46S (p.Ser46Ser) variant of EPAS1 (Q99814)
S46S (p.Ser46Ser) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S46S (p.Ser46Ser) variant details
- p.Ser46Ser
- rs1419595958
- gnomAD 2-46346984-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.73
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available