C7W (p.Cys7Trp) variant of TERT (Telomerase reverse transcriptase)
C7W (p.Cys7Trp) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
C7W (p.Cys7Trp) variant details
- p.Cys7Trp
- TOPMed rs1447706663
- gnomAD rs1447706663
- Likely benign
- Missense
- MetaLR 0.74
- MetaSVM 0.33
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available