G5D (p.Gly5Asp) variant of INSR (Insulin receptor)
G5D (p.Gly5Asp) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperinsulinism due to INSR deficiency; Rabson-Mendenhall syndrome; Insulin-resi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- rs886054690
- ClinGen CA10649260
- ClinVar RCV000276320
- ClinVar RCV000333796
- Uncertain significance
- Hyperinsulinism due to INSR deficiency; Rabson-Mendenhall syndrome; Insulin-resi
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -1.02
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Hyperinsulinism due to INSR deficiency; Rabson-Mendenhall syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)