A82T (p.Ala82Thr) variant of TTN (Titin)
A82T (p.Ala82Thr) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- Ensembl rs1575010544
- Missense
- CADD 24.90
- PolyPhen-2 1.00
- Population evidence available