K42E (p.Lys42Glu) variant of IFNAR2 (Interferon alpha/beta receptor 2)
K42E (p.Lys42Glu) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- ExAC rs756652516
- TOPMed rs756652516
- gnomAD rs756652516
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.34
- CADD 17.10
- PolyPhen-2 0.68
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available