P52R (p.Pro52Arg) variant of TTN (Titin)
P52R (p.Pro52Arg) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- ExAC rs761625399
- TOPMed rs761625399
- gnomAD rs761625399
- Missense
- CADD 25.20
- PolyPhen-2 1.00
- Population evidence available