T107M (p.Thr107Met) variant of INSR (Insulin receptor)
T107M (p.Thr107Met) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T107M (p.Thr107Met) variant details
- p.Thr107Met
- rs140762552
- ClinGen CA9136136
- cosmic curated COSV57157
- ClinVar RCV001817742
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.78
- MetaLR 0.70
- MetaSVM 0.52
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00065)
- Structural context available