A119T (p.Ala119Thr) variant of INSR (Insulin receptor)
A119T (p.Ala119Thr) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A119T (p.Ala119Thr) variant details
- p.Ala119Thr
- gnomAD rs929761465
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.86
- MetaLR 0.80
- MetaSVM 0.80
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available