F40L (p.Phe40Leu) variant of IL7R (P16871)
F40L (p.Phe40Leu) in IL7R (P16871) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- rs1759787978
- ClinGen CA359426693
- ClinVar RCV002260878
- ClinVar RCV004820909
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.90
- MetaLR 0.54
- MetaSVM -0.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation. (PMID 31379863)