Q45H (p.Gln45His) variant of IL7R (P16871)
Q45H (p.Gln45His) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- rs200464578
- ClinGen CA359426752
- ClinVar RCV001900777
- Ensembl rs200464578
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.63
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available