R46Q (p.Arg46Gln) variant of INS (Insulin)
R46Q (p.Arg46Gln) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetes mellitus, permanent neonatal 4; not provided; Maturity-onset diabetes o. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs121908260
- ClinGen CA123086
- NCI-TCGA Cosmic COSV9917
- cosmic curated COSV99171
- Conflicting interpretations
- Diabetes mellitus, permanent neonatal 4; not provided; Maturity-onset diabetes o
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.74
- MetaLR 0.84
- MetaSVM 0.79
- CADD 22.70
- PolyPhen-2 0.59
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, permanent neonatal 4; not provided; Maturity-)
- EBI: Pathogenic (in MODY10)
- UniProt: Pathogenic (in MODY10)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (PMID 18192540)
- Cited in: Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). (PMID 20226046)