S14N (p.Ser14Asn) variant of TTN (Titin)
S14N (p.Ser14Asn) 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.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- ExAC rs771027745
- gnomAD rs771027745
- Uncertain significance
- Missense
- CADD 24.20
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available