K18K (p.Lys18Lys) variant of EPAS1 (Q99814)
K18K (p.Lys18Lys) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K18K (p.Lys18Lys) variant details
- p.Lys18Lys
- rs1401881272
- gnomAD 2-46346900-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 9.76
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available