K72E (p.Lys72Glu) variant of TTN (Titin)
K72E (p.Lys72Glu) 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.
K72E (p.Lys72Glu) variant details
- p.Lys72Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 22.70
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available