V143M (p.Val143Met) variant of IL2RB (P14784)
V143M (p.Val143Met) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
V143M (p.Val143Met) variant details
- p.Val143Met
- ExAC rs752982148
- gnomAD rs752982148
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.39
- CADD 0.03
- PolyPhen-2 0.07
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)