V47D (p.Val47Asp) variant of IL2RB (P14784)
V47D (p.Val47Asp) in IL2RB (P14784) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
V47D (p.Val47Asp) variant details
- p.Val47Asp
- gnomAD rs1463023447
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.54
- CADD 5.40
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)