A3D (p.Ala3Asp) variant of EPAS1 (Q99814)
A3D (p.Ala3Asp) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 2-46297919-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.15
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available