Q15* (p.Gln15Ter) variant of LMNA (Prelamin-A/C)
Q15* (p.Gln15Ter) in LMNA (Prelamin-A/C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
Q15* (p.Gln15Ter) variant details
- p.Gln15Ter
- rs2102817088
- ClinGen CA342806990
- ClinVar RCV001949326
- Ensembl rs2102817088
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)