P80H (p.Pro80His) variant of IL2RG (P31785)
P80H (p.Pro80His) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P80H (p.Pro80His) variant details
- p.Pro80His
- TOPMed rs1343008020
- gnomAD rs1343008020
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.46
- CADD 23.90
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available