V64M (p.Val64Met) variant of IL2RG (P31785)
V64M (p.Val64Met) 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 0.82 / 1. The record also includes structural context.
V64M (p.Val64Met) variant details
- p.Val64Met
- rs1131691781
- ClinGen CA413497146
- ClinVar RCV000494129
- Ensembl rs1131691781
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.72
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available