K8E (p.Lys8Glu) variant of EPAS1 (Q99814)
K8E (p.Lys8Glu) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- gnomAD 2-46297933-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.13
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available