V33M (p.Val33Met) variant of EPAS1 (Q99814)
V33M (p.Val33Met) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V33M (p.Val33Met) variant details
- p.Val33Met
- ExAC rs776351419
- gnomAD rs776351419
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.34
- MetaLR 0.16
- MetaSVM -0.79
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available