D21A (p.Asp21Ala) variant of EPAS1 (Q99814)
D21A (p.Asp21Ala) in EPAS1 (Q99814) is a missense 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.
D21A (p.Asp21Ala) variant details
- p.Asp21Ala
- gnomAD 2-46346908-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.50
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available