A45G (p.Ala45Gly) variant of TTR (Transthyretin)
A45G (p.Ala45Gly) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- gnomAD 18-31592960-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.82
- MetaLR 0.96
- MetaSVM 1.09
- CADD 23.00
- PolyPhen-2 0.87
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available