A12V (p.Ala12Val) variant of INS (Insulin)
A12V (p.Ala12Val) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- ExAC rs777079520
- TOPMed rs777079520
- gnomAD rs777079520
- Uncertain significance
- not provided; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.29
- MetaLR 0.29
- MetaSVM -0.72
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Maturity-onset diabetes of the young type 10; Hype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available