S59R (p.Ser59Arg) variant of TTN (Titin)
S59R (p.Ser59Arg) 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.
S59R (p.Ser59Arg) variant details
- p.Ser59Arg
- rs191057824
- ClinGen CA138956
- ClinVar RCV000039956
- ClinVar RCV000617724
- Benign
- Missense
- CADD 24.20
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Population evidence available