R24Q (p.Arg24Gln) variant of EPAS1 (Q99814)
R24Q (p.Arg24Gln) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- gnomAD rs1255219046
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.44
- MetaLR 0.18
- MetaSVM -0.67
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available