R6H (p.Arg6His) variant of INS (Insulin)
R6H (p.Arg6His) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young type 10; Type 1 diabetes mellitus 2; Diabet. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs121908259
- ClinGen CA145259
- ClinVar RCV000059609
- ClinVar RCV003415831
- Conflicting interpretations
- Maturity-onset diabetes of the young type 10; Type 1 diabetes mellitus 2; Diabet
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.59
- MetaLR 0.76
- MetaSVM 0.01
- CADD 4.72
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young type 10; Type 1 diabetes me)
- EBI: Pathogenic (in MODY10)
- UniProt: Pathogenic (in MODY10)
- Most common in the African/African-American population (allele frequency 0.00051)
- Cited in: Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). (PMID 20226046)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)