V47L (p.Val47Leu) variant of IL2RB (P14784)
V47L (p.Val47Leu) 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 0.18 / 1. The record also includes population frequency data.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- rs746287644
- ClinGen CA10216738
- ClinVar RCV001957725
- ExAC rs746287644
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.26
- CADD 2.64
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)