A23T (p.Ala23Thr) variant of TTN (Titin)
A23T (p.Ala23Thr) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- cosmic curated COSV60353
- ESP rs147812158
- ExAC rs147812158
- TOPMed rs147812158
- Missense
- CADD 25.60
- PolyPhen-2 1.00
- Population evidence available