K5K (p.Lys5Lys) variant of EPAS1 (Q99814)
K5K (p.Lys5Lys) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K5K (p.Lys5Lys) variant details
- p.Lys5Lys
- rs763563822
- gnomAD 2-46297926-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available