S76G (p.Ser76Gly) variant of IL2RG (P31785)
S76G (p.Ser76Gly) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S76G (p.Ser76Gly) variant details
- p.Ser76Gly
- rs745652226
- ClinGen CA10443911
- ClinVar RCV001245376
- ExAC rs745652226
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.48
- CADD 23.10
- PolyPhen-2 0.74
- SIFT 0.25
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00048)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)