K125N (p.Lys125Asn) variant of IL2RB (P14784)
K125N (p.Lys125Asn) 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 0.61 / 1.
K125N (p.Lys125Asn) variant details
- p.Lys125Asn
- rs2146239071
- ClinGen CA411428559
- ClinVar RCV001888492
- Ensembl rs2146239071
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.73
- MetaLR 0.77
- MetaSVM -0.05
- PolyPhen-2 0.30
- SIFT 0.16
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance