D21D (p.Asp21Asp) variant of EPAS1 (Q99814)
D21D (p.Asp21Asp) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D21D (p.Asp21Asp) variant details
- p.Asp21Asp
- rs780192014
- gnomAD 2-46346909-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 9.42
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available