T9S (p.Thr9Ser) variant of TTN (Titin)
T9S (p.Thr9Ser) 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.
T9S (p.Thr9Ser) variant details
- p.Thr9Ser
- rs1298028827
- ClinGen CA349533884
- ClinVar RCV001508123
- TOPMed rs1298028827
- Uncertain significance
- Missense
- CADD 20.40
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available