Q6Q (p.Gln6Gln) variant of LMNA (Prelamin-A/C)
Q6Q (p.Gln6Gln) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q6Q (p.Gln6Gln) variant details
- p.Gln6Gln
- rs1383536412
- gnomAD 1-156114936-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 14.20
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available