T54S (p.Thr54Ser) variant of INS (Insulin)
T54S (p.Thr54Ser) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- TOPMed rs1845874638
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.40
- MetaLR 0.26
- MetaSVM -0.70
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.83
- Population evidence available
- Structural context available