C10F (p.Cys10Phe) variant of TTR (Transthyretin)
C10F (p.Cys10Phe) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C10F (p.Cys10Phe) variant details
- p.Cys10Phe
- gnomAD 18-31591931-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.40
- MetaLR 0.66
- MetaSVM -0.05
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available