K164R (p.Lys164Arg) variant of IL2RG (P31785)
K164R (p.Lys164Arg) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K164R (p.Lys164Arg) variant details
- p.Lys164Arg
- TOPMed rs1009255987
- gnomAD rs1009255987
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.08
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.39
- CADD 20.90
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available