A20V (p.Ala20Val) variant of IL2RB (P14784)
A20V (p.Ala20Val) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs538970680
- ClinGen CA10216776
- ClinVar RCV001907831
- 1000Genomes rs538970680
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.39
- CADD 9.10
- PolyPhen-2 0.28
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)