C42W (p.Cys42Trp) variant of IL7R (P16871)
C42W (p.Cys42Trp) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
C42W (p.Cys42Trp) variant details
- p.Cys42Trp
- rs1759788196
- ClinGen CA359426719
- ClinVar RCV001998094
- Ensembl rs1759788196
- Pathogenic
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.94
- MetaLR 0.55
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Immunodeficiency 104)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available