R113Q (p.Arg113Gln) variant of INSR (Insulin receptor)
R113Q (p.Arg113Gln) 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 0.35 / 1. The record also includes population frequency data and structural context.
R113Q (p.Arg113Gln) variant details
- p.Arg113Gln
- rs121913153
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10025
- TOPMed rs121913153
- Pathogenic
- in LEPRCH
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- MetaLR 0.17
- MetaSVM -0.87
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available