L151P (p.Leu151Pro) variant of IL2RG (P31785)
L151P (p.Leu151Pro) in IL2RG (P31785) 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 0.88 / 1. The record also includes published literature and structural context.
L151P (p.Leu151Pro) variant details
- p.Leu151Pro
- rs137852511
- ClinGen CA254994
- ClinVar RCV000010711
- Ensembl rs137852511
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined… (PMID 18728247)
- Cited in: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T… (PMID 8900089)