S12R (p.Ser12Arg) variant of LMNA (Prelamin-A/C)
S12R (p.Ser12Arg) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- gnomAD 1-156114954-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.22
- MetaSVM -0.86
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available