D97Y (p.Asp97Tyr) variant of IL2RG (P31785)
D97Y (p.Asp97Tyr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D97Y (p.Asp97Tyr) variant details
- p.Asp97Tyr
- TOPMed rs2092261643
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.46
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available