T2K (p.Thr2Lys) variant of EPAS1 (Q99814)
T2K (p.Thr2Lys) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T2K (p.Thr2Lys) variant details
- p.Thr2Lys
- gnomAD 2-46297916-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.17
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available