A54S (p.Ala54Ser) variant of EPAS1 (Q99814)
A54S (p.Ala54Ser) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- TOPMed rs1325679208
- gnomAD rs1325679208
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.37
- MetaLR 0.17
- MetaSVM -0.82
- CADD 27.10
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available