p.Gln15 Ala16insGlu variant of LMNA (Prelamin-A/C)
p.Gln15 Ala16insGlu in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln15 Ala16insGlu variant details
- rs751431601
- gnomAD 1-156114961-C-CAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 21.40
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available