S71C (p.Ser71Cys) variant of IL2RA (P01589)
S71C (p.Ser71Cys) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- ExAC rs766766658
- TOPMed rs766766658
- gnomAD rs766766658
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available