A23S (p.Ala23Ser) variant of EPAS1 (Q99814)
A23S (p.Ala23Ser) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- ExAC rs768863978
- gnomAD rs768863978
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.38
- MetaLR 0.22
- MetaSVM -0.45
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available