T54I (p.Thr54Ile) variant of IL2RG (P31785)
T54I (p.Thr54Ile) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- gnomAD rs1256746654
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- CADD 12.00
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available