P4Q (p.Pro4Gln) variant of TSC2 (Tuberin)
P4Q (p.Pro4Gln) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- ESP rs147206318
- ExAC rs147206318
- TOPMed rs147206318
- gnomAD rs147206318
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available