A99V (p.Ala99Val) variant of TTN (Titin)
A99V (p.Ala99Val) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
A99V (p.Ala99Val) variant details
- p.Ala99Val
- TOPMed rs1386336843
- gnomAD rs1386336843
- Missense
- CADD 23.60
- PolyPhen-2 0.14
- Population evidence available