T44S (p.Thr44Ser) variant of IL2RG (P31785)
T44S (p.Thr44Ser) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- rs7885041
- UniProt VAR 059301
- ExAC rs7885041
- TOPMed rs7885041
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.28
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign (in dbSNP:rs7885041)
- UniProt: Likely benign (in dbSNP:rs7885041)
- Population evidence available
- Structural context available