C72F (p.Cys72Phe) variant of IL2RG (P31785)
C72F (p.Cys72Phe) 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 0.95 / 1. The record also includes published literature and structural context.
C72F (p.Cys72Phe) variant details
- p.Cys72Phe
- rs1556330960
- ClinGen CA413497083
- ClinVar RCV000524824
- Ensembl rs1556330960
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)