K7I (p.Lys7Ile) variant of TSC2 (Tuberin)
K7I (p.Lys7Ile) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
K7I (p.Lys7Ile) variant details
- p.Lys7Ile
- ExAC rs137854215
- TOPMed rs137854215
- gnomAD rs137854215
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available