V104I (p.Val104Ile) variant of IL2RB (P14784)
V104I (p.Val104Ile) 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 0.04 / 1. The record also includes population frequency data.
V104I (p.Val104Ile) variant details
- p.Val104Ile
- rs892258127
- ClinGen CA324052115
- ClinVar RCV002596323
- TOPMed rs892258127
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0434
- REVEL 0.03
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)