T2I (p.Thr2Ile) variant of EPAS1 (Q99814)
T2I (p.Thr2Ile) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- Ensembl rs2104831352
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.94
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available