R5L (p.Arg5Leu) variant of TTR (Transthyretin)
R5L (p.Arg5Leu) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 18-31591916-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.31
- MetaLR 0.76
- MetaSVM -0.06
- CADD 1.04
- PolyPhen-2 0.04
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available