L14V (p.Leu14Val) variant of TTR (Transthyretin)
L14V (p.Leu14Val) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- TOPMed rs1347695561
- gnomAD rs1347695561
- Benign
- Missense
- MetaLR 0.92
- MetaSVM 1.00
- SIFT 0.11
- EBI: Benign
- UniProt: Benign
- Structural context available