A23A (p.Ala23Ala) variant of EPAS1 (Q99814)
A23A (p.Ala23Ala) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs1219457249
- gnomAD 2-46346915-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0836
- CADD 0.41
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available