L55P (p.Leu55Pro) variant of IL7R (P16871)
L55P (p.Leu55Pro) 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 0.67 / 1. The record also includes population frequency data and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs1273552553
- ClinGen CA359426866
- ClinVar RCV000810774
- TOPMed rs1273552553
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.70
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available