R131C (p.Arg131Cys) variant of IL2RB (P14784)
R131C (p.Arg131Cys) 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 0.83 / 1. The record also includes population frequency data.
R131C (p.Arg131Cys) variant details
- p.Arg131Cys
- rs781374953
- ClinGen CA10216624
- ClinVar RCV002606956
- ExAC rs781374953
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)