S40L (p.Ser40Leu) variant of IL2RB (P14784)
S40L (p.Ser40Leu) in IL2RB (P14784) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs1922072844
- ClinGen CA411429602
- ClinVar RCV000787341
- Ensembl rs1922072844
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.66
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. (PMID 31040185)