L172M (p.Leu172Met) variant of IL2RG (P31785)
L172M (p.Leu172Met) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L172M (p.Leu172Met) variant details
- p.Leu172Met
- rs141707292
- ClinGen CA10443857
- ClinVar RCV001348578
- ESP rs141707292
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.72
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic (in XSCID)
- UniProt: Likely pathogenic (in XSCID)
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)