R58Q (p.Arg58Gln) variant of EPAS1 (Q99814)
R58Q (p.Arg58Gln) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- Ensembl rs2103616316
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.55
- MetaLR 0.22
- MetaSVM -0.40
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available