L77P (p.Leu77Pro) variant of IL2RB (P14784)
L77P (p.Leu77Pro) in IL2RB (P14784) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD63. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
L77P (p.Leu77Pro) variant details
- p.Leu77Pro
- rs934523851
- ClinGen CA324055131
- ClinVar RCV000787340
- UniProt VAR 083103
- Pathogenic
- in IMD63
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.45
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.04
- EBI: Pathogenic (in IMD63)
- UniProt: Pathogenic (in IMD63)
- Most common in the South Asian population (allele frequency 5.8e-05)
- Cited in: Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. (PMID 31040185)
- Cited in: A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. (PMID 31040184)