H236R (p.His236Arg) variant of INSR (Insulin receptor)
H236R (p.His236Arg) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leprechaunism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
H236R (p.His236Arg) variant details
- p.His236Arg
- rs121913145
- ClinGen CA124236
- ClinVar RCV000015808
- UniProt VAR 004084
- Pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.87
- MetaLR 0.82
- MetaSVM 0.85
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in RMS and LEPRCH)
- UniProt: Pathogenic (in RMS and LEPRCH)
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Substitution of arginine for histidine at position 209 in the alpha-subunit of the human insulin receptor. A mutation… (PMID 1657953)
- Cited in: Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. (PMID 17201797)