Q45P (p.Gln45Pro) variant of IL7R (P16871)
Q45P (p.Gln45Pro) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
Q45P (p.Gln45Pro) variant details
- p.Gln45Pro
- rs1561418803
- ClinVar RCV000766122
- TOPMed rs1561418803
- no classification for the single variant
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.63
- MetaLR 0.59
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available