R46K (p.Arg46Lys) variant of INSR (Insulin receptor)
R46K (p.Arg46Lys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- ExAC rs758865457
- TOPMed rs758865457
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.28
- MetaLR 0.35
- MetaSVM -0.48
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available