K8K (p.Lys8Lys) variant of EPAS1 (Q99814)
K8K (p.Lys8Lys) in EPAS1 (Q99814) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- rs1219658245
- gnomAD 2-46297935-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 18.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available