S46R (p.Ser46Arg) variant of EPAS1 (Q99814)
S46R (p.Ser46Arg) 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.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- gnomAD 2-46346982-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 26.40
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available