I121V (p.Ile121Val) variant of IL2RB (P14784)
I121V (p.Ile121Val) 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 0.32 / 1. The record also includes population frequency data.
I121V (p.Ile121Val) variant details
- p.Ile121Val
- rs1405317424
- ClinGen CA411428590
- ClinVar RCV002001109
- TOPMed rs1405317424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- AlphaMissense 0.09
- MetaLR 0.65
- MetaSVM -0.20
- CADD 13.60
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)