T50P (p.Thr50Pro) variant of TTN (Titin)
T50P (p.Thr50Pro) 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.
T50P (p.Thr50Pro) variant details
- p.Thr50Pro
- rs1217255349
- ClinGen CA349531275
- ClinVar RCV004545497
- gnomAD rs1217255349
- Uncertain significance
- Missense
- CADD 23.20
- PolyPhen-2 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available