T24N (p.Thr24Asn) variant of TTN (Titin)
T24N (p.Thr24Asn) 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.
T24N (p.Thr24Asn) variant details
- p.Thr24Asn
- rs536235994
- ClinGen CA2006436
- ClinVar RCV002370839
- ClinVar RCV005635525
- Uncertain significance
- Missense
- CADD 25.30
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available