P9S (p.Pro9Ser) variant of INS (Insulin)
P9S (p.Pro9Ser) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of INS-related disorder; Diabetes mellitus, permanent neonatal 4; Hyperproinsulinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs372122432
- ClinGen CA10634387
- ClinVar RCV000325720
- ClinVar RCV000389656
- Uncertain significance
- INS-related disorder; Diabetes mellitus, permanent neonatal 4; Hyperproinsulinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.43
- MetaLR 0.75
- MetaSVM 0.25
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.95
- ClinVar: Uncertain significance (INS-related disorder; Diabetes mellitus, permanent neonatal 4; H)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)