G58R (p.Gly58Arg) variant of INSR (Insulin receptor)
G58R (p.Gly58Arg) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs52836744
- ClinGen CA124247
- ClinVar RCV000015814
- UniProt VAR 004081
- Pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.91
- MetaLR 0.89
- MetaSVM 1.05
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor… (PMID 1730625)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)