A23T (p.Ala23Thr) variant of INS (Insulin)
A23T (p.Ala23Thr) 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; Diabetes mellitus, permanent neona. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs13306444
- ClinGen CA5818192
- ClinVar RCV000905000
- ClinVar RCV001107550
- Conflicting interpretations
- Maturity-onset diabetes of the young type 10; Diabetes mellitus, permanent neona
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.35
- MetaLR 0.70
- MetaSVM 0.04
- CADD 1.08
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young type 10; Diabetes mellitus,)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.071)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)