L162V (p.Leu162Val) variant of IL2RG (P31785)
L162V (p.Leu162Val) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Combined immunodeficiency, X-linked; X-linked severe combined imm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L162V (p.Leu162Val) variant details
- p.Leu162Val
- rs2147749821
- ClinGen CA413496448
- ClinVar RCV001733815
- ClinVar RCV002032743
- Uncertain significance
- not specified; Combined immunodeficiency, X-linked; X-linked severe combined imm
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.11
- MetaLR 0.66
- MetaSVM -0.38
- PolyPhen-2 0.08
- SIFT 0.98
- EVE 0.21
- ClinVar: Uncertain significance (not specified; Combined immunodeficiency, X-linked; X-linked sev)
- EBI: Variant of uncertain significance (in XSCID)
- UniProt: Uncertain significance (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)