R113L (p.Arg113Leu) variant of INSR (Insulin receptor)
R113L (p.Arg113Leu) in INSR (Insulin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LEPRCH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R113L (p.Arg113Leu) variant details
- p.Arg113Leu
- TOPMed rs121913153
- gnomAD rs121913153
- Pathogenic
- in LEPRCH
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.45
- MetaLR 0.41
- MetaSVM -0.25
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.01
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available