Q30Q (p.Gln30Gln) variant of LMNA (Prelamin-A/C)
Q30Q (p.Gln30Gln) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q30Q (p.Gln30Gln) variant details
- p.Gln30Gln
- rs1325971304
- gnomAD 1-156115008-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 14.50
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available