A26T (p.Ala26Thr) variant of INSR (Insulin receptor)
A26T (p.Ala26Thr) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- 1000Genomes rs530278666
- ExAC rs530278666
- TOPMed rs530278666
- gnomAD rs530278666
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- MetaLR 0.21
- MetaSVM -0.95
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available