R46P (p.Arg46Pro) variant of TNNC1 (P63316)
R46P (p.Arg46Pro) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- gnomAD 19-55156295-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.64
- CADD 24.50
- PolyPhen-2 0.79
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available