T24S (p.Thr24Ser) variant of TTN (Titin)
T24S (p.Thr24Ser) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
T24S (p.Thr24Ser) variant details
- p.Thr24Ser
- rs536235994
- ClinGen CA2006437
- ClinVar RCV002370842
- ClinVar RCV005405899
- Likely benign
- Missense
- CADD 25.00
- PolyPhen-2 0.96
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available