R41S (p.Arg41Ser) variant of TTR (Transthyretin)
R41S (p.Arg41Ser) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs778483568
- gnomAD 18-31592942-C-CAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available