H45Y (p.His45Tyr) variant of EPAS1 (Q99814)
H45Y (p.His45Tyr) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H45Y (p.His45Tyr) variant details
- p.His45Tyr
- ExAC rs766269051
- gnomAD rs766269051
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.23
- AlphaMissense 0.13
- MetaLR 0.11
- MetaSVM -0.90
- CADD 24.90
- PolyPhen-2 0.98
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available