H62Y (p.His62Tyr) variant of IL2RB (P14784)
H62Y (p.His62Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
H62Y (p.His62Tyr) variant details
- p.His62Tyr
- rs185863845
- ClinGen CA10216731
- ClinVar RCV002301408
- 1000Genomes rs185863845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.33
- CADD 4.51
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)