G76V (p.Gly76Val) variant of TTN (Titin)
G76V (p.Gly76Val) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and population frequency data.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- ESP rs138750421
- ExAC rs138750421
- TOPMed rs138750421
- gnomAD rs138750421
- Benign
- Missense
- CADD 25.00
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Population evidence available