A49V (p.Ala49Val) variant of TTR (Transthyretin)
A49V (p.Ala49Val) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD 18-31592972-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.28
- MetaLR 0.74
- MetaSVM 0.00
- CADD 7.97
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available