Q55K (p.Gln55Lys) variant of IL2RB (P14784)
Q55K (p.Gln55Lys) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
Q55K (p.Gln55Lys) variant details
- p.Gln55Lys
- rs538933768
- ClinGen CA10216733
- ClinVar RCV002090618
- 1000Genomes rs538933768
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.26
- CADD 8.29
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SHE population (allele frequency 0.056)