G87R (p.Gly87Arg) variant of TTN (Titin)
G87R (p.Gly87Arg) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
G87R (p.Gly87Arg) variant details
- p.Gly87Arg
- rs756996890
- ExAC rs756996890
- TOPMed rs756996890
- gnomAD rs756996890
- Uncertain significance
- Missense
- CADD 24.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available