R25S (p.Arg25Ser) variant of LMNA (Prelamin-A/C)
R25S (p.Arg25Ser) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- gnomAD 1-156114991-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.54
- CADD 27.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available