P52R (p.Pro52Arg) variant of INS (Insulin)
P52R (p.Pro52Arg) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal insulin-dependent diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs145038693
- ClinGen CA5818182
- ClinVar RCV002464669
- ESP rs145038693
- Likely pathogenic
- Neonatal insulin-dependent diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.66
- MetaLR 0.77
- MetaSVM 0.54
- CADD 24.80
- SIFT 0.02
- ClinVar: Likely pathogenic (Neonatal insulin-dependent diabetes mellitus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available