D21N (p.Asp21Asn) variant of EPAS1 (Q99814)
D21N (p.Asp21Asn) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- gnomAD 2-46346907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available