V42A (p.Val42Ala) variant of INS (Insulin)
V42A (p.Val42Ala) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Maturity-onset diabetes of the young type 10. The record also includes published literature and structural context.
V42A (p.Val42Ala) variant details
- p.Val42Ala
- rs886037863
- ClinGen CA10586325
- ClinVar RCV000240176
- ClinVar RCV004719789
- Pathogenic/Likely pathogenic
- not provided; Maturity-onset diabetes of the young type 10
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Maturity-onset diabetes of the young type 10)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)