L12S (p.Leu12Ser) variant of TTN (Titin)
L12S (p.Leu12Ser) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- cosmic curated COSV60011
- Missense
- CADD 26.40
- PolyPhen-2 0.96
- Population evidence available