Q54* (p.Gln54Ter) variant of CACNA1A (O00555)
Q54* (p.Gln54Ter) in CACNA1A (O00555) is a protein-truncating change. The record also includes structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- cosmic curated COSV10592
- Stop Gained
- Structural context available