E36K (p.Glu36Lys) variant of TTN (Titin)
E36K (p.Glu36Lys) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- Ensembl rs2094110497
- Missense
- CADD 26.60
- PolyPhen-2 0.99
- Population evidence available