I136L (p.Ile136Leu) variant of IL2RB (P14784)
I136L (p.Ile136Leu) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
I136L (p.Ile136Leu) variant details
- p.Ile136Leu
- rs764222346
- ClinGen CA10216621
- ClinVar RCV001903930
- ClinVar RCV005584959
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.23
- CADD 0.34
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)