N47T (p.Asn47Thr) variant of TTR (Transthyretin)
N47T (p.Asn47Thr) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N47T (p.Asn47Thr) variant details
- p.Asn47Thr
- ESP rs145551875
- ExAC rs145551875
- TOPMed rs145551875
- gnomAD rs145551875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.46
- MetaLR 0.85
- MetaSVM 0.45
- CADD 14.90
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available