K8del (p.Lys8del) variant of EPAS1 (Q99814)
K8del (p.Lys8del) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K8del (p.Lys8del) variant details
- rs1430521878
- gnomAD 2-46297927-GAGA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 22.70
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available