H45H (p.His45His) variant of EPAS1 (Q99814)
H45H (p.His45His) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H45H (p.His45His) variant details
- p.His45His
- rs1327240487
- gnomAD 2-46346981-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 10.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available