R9K (p.Arg9Lys) variant of EPAS1 (Q99814)
R9K (p.Arg9Lys) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- gnomAD 2-46297937-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.08
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available