T31T (p.Thr31Thr) variant of EPAS1 (Q99814)
T31T (p.Thr31Thr) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T31T (p.Thr31Thr) variant details
- p.Thr31Thr
- gnomAD 2-46346939-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 2.52
- Population evidence available
- Structural context available
- Literature evidence available