R46K (p.Arg46Lys) variant of TNNC1 (P63316)
R46K (p.Arg46Lys) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- rs3729710
- gnomAD 19-55156285-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 12.90
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.25)
- Structural context available
- Literature evidence available