R9S (p.Arg9Ser) variant of EPAS1 (Q99814)
R9S (p.Arg9Ser) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 2-46346873-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.15
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available