A22A (p.Ala22Ala) variant of EPAS1 (Q99814)
A22A (p.Ala22Ala) 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.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs749668860
- gnomAD 2-46346912-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0913
- CADD 1.51
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available