A102T (p.Ala102Thr) variant of TTN (Titin)
A102T (p.Ala102Thr) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- Ensembl rs752812697
- Missense
- CADD 23.80
- PolyPhen-2 0.99
- Population evidence available