L14S (p.Leu14Ser) variant of IL7R (P16871)
L14S (p.Leu14Ser) 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 0.64 / 1. The record also includes population frequency data and structural context.
L14S (p.Leu14Ser) variant details
- p.Leu14Ser
- rs1759661333
- ClinGen CA359425853
- ClinVar RCV002244108
- Ensembl rs1759661333
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.63
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available