S12S (p.Ser12Ser) variant of LMNA (Prelamin-A/C)
S12S (p.Ser12Ser) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- gnomAD 1-156114954-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available