R46* (p.Arg46Ter) variant of TNNC1 (P63316)
R46* (p.Arg46Ter) in TNNC1 (P63316) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- rs1286340820
- gnomAD 19-55156296-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available