L35R (p.Leu35Arg) variant of IL7R (P16871)
L35R (p.Leu35Arg) 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 0.20 / 1. The record also includes population frequency data and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- ExAC rs35967524
- TOPMed rs35967524
- gnomAD rs35967524
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.26
- CADD 5.96
- PolyPhen-2 0.20
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available