K129R (p.Lys129Arg) variant of INSR (Insulin receptor)
K129R (p.Lys129Arg) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
K129R (p.Lys129Arg) variant details
- p.Lys129Arg
- rs1310336610
- ClinGen CA403159597
- ClinVar RCV001820501
- TOPMed rs1310336610
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.79
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available