R11S (p.Arg11Ser) variant of LMNA (Prelamin-A/C)
R11S (p.Arg11Ser) in LMNA (Prelamin-A/C) is a missense 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.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- gnomAD 1-156114949-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.27
- MetaSVM -0.67
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available