I136V (p.Ile136Val) variant of IL2RB (P14784)
I136V (p.Ile136Val) 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 0.14 / 1. The record also includes population frequency data.
I136V (p.Ile136Val) variant details
- p.Ile136Val
- rs764222346
- ClinGen CA411428432
- ClinVar RCV001899594
- ClinVar RCV005851952
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.20
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)