S49A (p.Ser49Ala) variant of EPAS1 (Q99814)
S49A (p.Ser49Ala) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S49A (p.Ser49Ala) variant details
- p.Ser49Ala
- ExAC rs763745333
- gnomAD rs763745333
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.11
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available