K120N (p.Lys120Asn) variant of IL2RG (P31785)
K120N (p.Lys120Asn) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K120N (p.Lys120Asn) variant details
- p.Lys120Asn
- gnomAD rs1270657479
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.10
- CADD 5.57
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available