G44R (p.Gly44Arg) variant of INS (Insulin)
G44R (p.Gly44Arg) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Transient Neonatal Diabetes, Dominant/Recessive; Maturity-onset diabetes of the. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- rs765512575
- ClinGen CA5818188
- ClinVar RCV000304558
- ClinVar RCV000359349
- Conflicting interpretations
- Transient Neonatal Diabetes, Dominant/Recessive; Maturity-onset diabetes of the
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.80
- MetaLR 0.79
- MetaSVM 0.65
- CADD 23.60
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Transient Neonatal Diabetes, Dominant/Recessive; Maturity-onset)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)