V143L (p.Val143Leu) variant of IL2RB (P14784)
V143L (p.Val143Leu) 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 0.18 / 1. The record also includes population frequency data.
V143L (p.Val143Leu) variant details
- p.Val143Leu
- ExAC rs752982148
- gnomAD rs752982148
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.28
- CADD 0.01
- PolyPhen-2 0.02
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)