P56S (p.Pro56Ser) variant of IL2RG (P31785)
P56S (p.Pro56Ser) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- TOPMed rs1336706562
- gnomAD rs1336706562
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.39
- CADD 22.80
- PolyPhen-2 0.45
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available