R20Q (p.Arg20Gln) variant of EPAS1 (Q99814)
R20Q (p.Arg20Gln) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- TOPMed rs1232847847
- gnomAD rs1232847847
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.29
- MetaLR 0.12
- MetaSVM -0.70
- CADD 28.10
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available