T51I (p.Thr51Ile) variant of INS (Insulin)
T51I (p.Thr51Ile) in INS (Insulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- 1000Genomes rs556809279
- ExAC rs556809279
- TOPMed rs556809279
- gnomAD rs556809279
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.36
- MetaLR 0.45
- MetaSVM -0.57
- CADD 16.80
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available