S14I (p.Ser14Ile) variant of TTN (Titin)
S14I (p.Ser14Ile) 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.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- rs771027745
- ClinGen CA2006446
- ClinVar RCV000217615
- ClinVar RCV000726334
- Uncertain significance
- Missense
- CADD 24.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available