T2T (p.Thr2Thr) variant of EPAS1 (Q99814)
T2T (p.Thr2Thr) in EPAS1 (Q99814) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T2T (p.Thr2Thr) variant details
- p.Thr2Thr
- rs1027294803
- gnomAD 2-46297917-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 15.70
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available