Q26K (p.Gln26Lys) variant of IL7R (P16871)
Q26K (p.Gln26Lys) in IL7R (P16871) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- ExAC rs202007062
- TOPMed rs202007062
- gnomAD rs202007062
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.08
- CADD 19.90
- PolyPhen-2 0.11
- SIFT 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available