A2T (p.Ala2Thr) variant of INS (Insulin)
A2T (p.Ala2Thr) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- 1000Genomes rs535989053
- ExAC rs535989053
- TOPMed rs535989053
- gnomAD rs535989053
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.71
- MetaLR 0.96
- MetaSVM 1.09
- CADD 21.20
- PolyPhen-2 0.49
- SIFT 0.16
- Most common in the HGDP:LAHU population (allele frequency 0.1)