K7K (p.Lys7Lys) variant of EPAS1 (Q99814)
K7K (p.Lys7Lys) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K7K (p.Lys7Lys) variant details
- p.Lys7Lys
- rs1167162271
- gnomAD 2-46297932-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available