C30C (p.Cys30Cys) variant of TTR (Transthyretin)
C30C (p.Cys30Cys) in TTR (Transthyretin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
C30C (p.Cys30Cys) variant details
- p.Cys30Cys
- rs528500765
- gnomAD 18-31592916-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available