A5G (p.Ala5Gly) variant of IL2RB (P14784)
A5G (p.Ala5Gly) 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 0.23 / 1. The record also includes population frequency data.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs148235304
- ClinGen CA324056665
- ClinVar RCV003086352
- ClinVar RCV005854416
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.25
- CADD 5.88
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)