K5del (p.Lys5del) variant of EPAS1 (Q99814)
K5del (p.Lys5del) 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.
K5del (p.Lys5del) variant details
- gnomAD 2-46297923-CAAG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available