Q55H (p.Gln55His) variant of TTN (Titin)
Q55H (p.Gln55His) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
Q55H (p.Gln55His) variant details
- p.Gln55His
- Ensembl rs1561527314
- Likely benign
- Missense
- CADD 24.70
- PolyPhen-2 0.93
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available