N39S (p.Asn39Ser) variant of IL2RB (P14784)
N39S (p.Asn39Ser) 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 0.44 / 1. The record also includes population frequency data.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- rs2146244957
- ClinGen CA411429612
- ClinVar RCV002014683
- Ensembl rs2146244957
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- CADD 25.10
- PolyPhen-2 0.79
- SIFT 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 3.6e-06)