L6V (p.Leu6Val) variant of IL2RB (P14784)
L6V (p.Leu6Val) in IL2RB (P14784) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs973200850
- gnomAD rs973200850
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.28
- CADD 9.39
- PolyPhen-2 0.79
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.3e-05)