G42D (p.Gly42Asp) variant of TTR (Transthyretin)
G42D (p.Gly42Asp) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- ExAC rs748604974
- gnomAD rs748604974
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available