S137C (p.Ser137Cys) variant of IL2RB (P14784)
S137C (p.Ser137Cys) in IL2RB (P14784) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
S137C (p.Ser137Cys) variant details
- p.Ser137Cys
- TOPMed rs1257429954
- gnomAD rs1257429954
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)