K16T (p.Lys16Thr) variant of EPAS1 (Q99814)
K16T (p.Lys16Thr) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K16T (p.Lys16Thr) variant details
- p.Lys16Thr
- gnomAD 2-46346893-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.44
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available