P130L (p.Pro130Leu) variant of IL2RA (P01589)
P130L (p.Pro130Leu) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P130L (p.Pro130Leu) variant details
- p.Pro130Leu
- gnomAD rs1401837237
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.22
- AlphaMissense 0.08
- MetaLR 0.25
- MetaSVM -0.78
- CADD 15.10
- PolyPhen-2 0.86
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available