S18S (p.Ser18Ser) variant of LMNA (Prelamin-A/C)
S18S (p.Ser18Ser) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- gnomAD 1-156114972-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available