P9R (p.Pro9Arg) variant of INS (Insulin)
P9R (p.Pro9Arg) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely risk allele in the context of Neonatal insulin-dependent diabetes mellitus. The record also includes published literature and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- rs1564912403
- ClinGen CA379122455
- ClinVar RCV000768377
- ClinVar RCV002464311
- Likely risk allele
- Neonatal insulin-dependent diabetes mellitus
- Missense
- ClinVar: Likely risk allele (Neonatal insulin-dependent diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)