S5S (p.Ser5Ser) variant of LMNA (Prelamin-A/C)
S5S (p.Ser5Ser) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- gnomAD 1-156114933-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available