Q30* (p.Gln30Ter) variant of LMNA (Prelamin-A/C)
Q30* (p.Gln30Ter) in LMNA (Prelamin-A/C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- gnomAD 1-156115006-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.82
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available