A54A (p.Ala54Ala) variant of EPAS1 (Q99814)
A54A (p.Ala54Ala) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs528826650
- gnomAD 2-46347008-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 10.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available