P56R (p.Pro56Arg) variant of IL2RG (P31785)
P56R (p.Pro56Arg) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- ExAC rs774569887
- TOPMed rs774569887
- gnomAD rs774569887
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.60
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available