N84S (p.Asn84Ser) variant of TTN (Titin)
N84S (p.Asn84Ser) 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.
N84S (p.Asn84Ser) variant details
- p.Asn84Ser
- rs912344670
- ClinGen CA60989007
- ClinVar RCV003137218
- TOPMed rs912344670
- Uncertain significance
- Missense
- CADD 24.40
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available