H51R (p.His51Arg) variant of TTR (Transthyretin)
H51R (p.His51Arg) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- rs772036998
- gnomAD 18-31592977-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available