A2V (p.Ala2Val) variant of IL2RB (P14784)
A2V (p.Ala2Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs769321719
- ClinGen CA10216786
- ClinVar RCV001920179
- ClinVar RCV005851981
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.46
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)