P31L (p.Pro31Leu) variant of TTR (Transthyretin)
P31L (p.Pro31Leu) 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.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 18-31592918-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available