S49F (p.Ser49Phe) variant of IL2RG (P31785)
S49F (p.Ser49Phe) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- gnomAD rs1248436662
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.26
- CADD 15.00
- PolyPhen-2 0.04
- SIFT 0.13
- Population evidence available
- Structural context available