R6C (p.Arg6Cys) variant of INS (Insulin)
R6C (p.Arg6Cys) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely risk allele in the context of Maturity-onset diabetes of the young type 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs121908278
- ClinGen CA123085
- cosmic curated COSV51747
- ClinVar RCV000014322
- Likely risk allele
- Maturity-onset diabetes of the young type 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.46
- MetaLR 0.89
- MetaSVM 0.95
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Likely risk allele (Maturity-onset diabetes of the young type 10)
- EBI: Pathogenic (in MODY10)
- UniProt: Pathogenic (in MODY10)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)
- Cited in: Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (PMID 18192540)