R14T (p.Arg14Thr) variant of EPAS1 (Q99814)
R14T (p.Arg14Thr) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R14T (p.Arg14Thr) variant details
- p.Arg14Thr
- gnomAD 2-46346887-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available