M46R (p.Met46Arg) variant of IL2RA (P01589)
M46R (p.Met46Arg) in IL2RA (P01589) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M46R (p.Met46Arg) variant details
- p.Met46Arg
- TOPMed rs979148208
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.20
- CADD 16.30
- PolyPhen-2 0.70
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available