A3A (p.Ala3Ala) variant of EPAS1 (Q99814)
A3A (p.Ala3Ala) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1219410135
- gnomAD 2-46297920-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available