L35Q (p.Leu35Gln) variant of IL7R (P16871)
L35Q (p.Leu35Gln) 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 0.17 / 1. The record also includes population frequency data and structural context.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- rs35967524
- ClinGen CA3231847
- ClinVar RCV001927514
- ExAC rs35967524
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.23
- CADD 4.27
- PolyPhen-2 0.02
- SIFT 0.43
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available