K53K (p.Lys53Lys) variant of EPAS1 (Q99814)
K53K (p.Lys53Lys) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- rs1684043191
- gnomAD 2-46347005-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 9.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available