S112* (p.Ser112Ter) variant of INSR (Insulin receptor)
S112* (p.Ser112Ter) in INSR (Insulin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S112* (p.Ser112Ter) variant details
- p.Ser112Ter
- TOPMed rs1967780431
- gnomAD rs1967780431
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 36.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available