T9K (p.Thr9Lys) variant of TTN (Titin)
T9K (p.Thr9Lys) 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.
T9K (p.Thr9Lys) variant details
- p.Thr9Lys
- rs146123323
- ClinGen CA60990095
- ClinVar RCV003137190
- ESP rs146123323
- Uncertain significance
- Missense
- CADD 17.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available