K80R (p.Lys80Arg) variant of INSR (Insulin receptor)
K80R (p.Lys80Arg) in INSR (Insulin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K80R (p.Lys80Arg) variant details
- p.Lys80Arg
- rs775877781
- ExAC rs775877781
- TOPMed rs775877781
- gnomAD rs775877781
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.19
- MetaLR 0.36
- MetaSVM -0.57
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available