T12M (p.Thr12Met) variant of IL2RA (P01589)
T12M (p.Thr12Met) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T12M (p.Thr12Met) variant details
- p.Thr12Met
- TOPMed rs1012971945
- gnomAD rs1012971945
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- CADD 20.30
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available