C57R (p.Cys57Arg) variant of IL7R (P16871)
C57R (p.Cys57Arg) 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 0.66 / 1. The record also includes structural context.
C57R (p.Cys57Arg) variant details
- p.Cys57Arg
- rs1759791006
- ClinGen CA359426883
- ClinVar RCV001208645
- Ensembl rs1759791006
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.95
- MetaLR 0.54
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available