V47I (p.Val47Ile) variant of IL2RB (P14784)
V47I (p.Val47Ile) in IL2RB (P14784) 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 0.14 / 1. The record also includes population frequency data.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- ExAC rs746287644
- TOPMed rs746287644
- gnomAD rs746287644
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.19
- CADD 1.95
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)