A9T (p.Ala9Thr) variant of INSR (Insulin receptor)
A9T (p.Ala9Thr) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- TOPMed rs1417610197
- gnomAD rs1417610197
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -0.97
- CADD 5.96
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 4.1e-05)
- Structural context available