R112* (p.Arg112Ter) variant of FAT2 (Protocadherin Fat 2)
R112* (p.Arg112Ter) in FAT2 (Protocadherin Fat 2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes variant effect predictions and population frequency data.
R112* (p.Arg112Ter) variant details
- p.Arg112Ter
- rs1403035184
- TOPMed rs1403035184
- gnomAD rs1403035184
- Variant assessed as somatic; high impact.
- Stop Gained
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available