Q6S (p.Gln6Ser) variant of LMNA (Prelamin-A/C)
Q6S (p.Gln6Ser) in LMNA (Prelamin-A/C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q6S (p.Gln6Ser) variant details
- p.Gln6Ser
- rs1649696391
- gnomAD 1-156114931-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 27.70
- Population evidence available
- Structural context available
- Literature evidence available