F63L (p.Phe63Leu) variant of EPAS1 (Q99814)
F63L (p.Phe63Leu) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F63L (p.Phe63Leu) variant details
- p.Phe63Leu
- Ensembl rs2103616339
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.29
- MetaLR 0.10
- MetaSVM -1.10
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available