K8R (p.Lys8Arg) variant of EPAS1 (Q99814)
K8R (p.Lys8Arg) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- TOPMed rs1242120796
- gnomAD rs1242120796
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -1.07
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available