S12S (p.Ser12Ser) variant of EPAS1 (Q99814)
S12S (p.Ser12Ser) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs745916461
- gnomAD 2-46346882-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.09
- CADD 1.32
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available