S19S (p.Ser19Ser) variant of EPAS1 (Q99814)
S19S (p.Ser19Ser) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S19S (p.Ser19Ser) variant details
- p.Ser19Ser
- rs1186911662
- gnomAD 2-46346903-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 10.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available