S57F (p.Ser57Phe) variant of TTN (Titin)
S57F (p.Ser57Phe) 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.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- rs1274297049
- ClinGen CA349531079
- cosmic curated COSV60346
- ClinVar RCV001774705
- Uncertain significance
- Missense
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available