P35T (p.Pro35Thr) variant of TTN (Titin)
P35T (p.Pro35Thr) in TTN (Titin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- ExAC rs779420414
- TOPMed rs779420414
- gnomAD rs779420414
- Uncertain significance
- not provided
- Missense
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available