L51R (p.Leu51Arg) variant of TTN (Titin)
L51R (p.Leu51Arg) 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.
L51R (p.Leu51Arg) variant details
- p.Leu51Arg
- rs868419744
- ClinGen CA60989112
- ClinVar RCV002402951
- TOPMed rs868419744
- Likely benign
- Missense
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available