E100K (p.Glu100Lys) variant of TTN (Titin)
E100K (p.Glu100Lys) 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.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs966391166
- Ensembl rs966391166
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.35
- MetaLR 0.24
- MetaSVM -0.60
- PolyPhen-2 0.62
- SIFT 0.16
- MutPred 0.40
- UniProt: Variant assessed as somatic; moderate impact.