E75D (p.Glu75Asp) variant of IL2RB (P14784)
E75D (p.Glu75Asp) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
E75D (p.Glu75Asp) variant details
- p.Glu75Asp
- rs113714217
- ClinGen CA324055134
- ClinVar RCV002700332
- ClinVar RCV004066913
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.26
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)