S79F (p.Ser79Phe) variant of TTN (Titin)
S79F (p.Ser79Phe) in TTN (Titin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
S79F (p.Ser79Phe) variant details
- p.Ser79Phe
- NCI-TCGA Cosmic COSV5988
- cosmic curated COSV59889
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 25.80
- PolyPhen-2 0.94
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available