A3V (p.Ala3Val) variant of IL2RB (P14784)
A3V (p.Ala3Val) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1440345674
- ClinGen CA411429834
- ClinVar RCV004405239
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.34
- CADD 3.85
- PolyPhen-2 0.33
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available