V45L (p.Val45Leu) variant of TTN (Titin)
V45L (p.Val45Leu) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
V45L (p.Val45Leu) variant details
- p.Val45Leu
- rs142028110
- ClinGen CA2006411
- cosmic curated COSV99045
- ClinVar RCV002226171
- Uncertain significance
- Missense
- CADD 22.60
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available