R140T (p.Arg140Thr) variant of IL2RG (P31785)
R140T (p.Arg140Thr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
R140T (p.Arg140Thr) variant details
- p.Arg140Thr
- rs2147750206
- ClinGen CA413496599
- ClinVar RCV001531161
- Ensembl rs2147750206
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.40
- MetaLR 0.86
- MetaSVM 0.41
- PolyPhen-2 0.98
- SIFT 0.15
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available