I67T (p.Ile67Thr) variant of TTN (Titin)
I67T (p.Ile67Thr) 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, population frequency data, and published literature.
I67T (p.Ile67Thr) variant details
- p.Ile67Thr
- rs952685437
- ClinGen CA349530881
- ClinVar RCV000769147
- TOPMed rs952685437
- Uncertain significance
- Missense
- CADD 25.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)