R11G (p.Arg11Gly) variant of LMNA (Prelamin-A/C)
R11G (p.Arg11Gly) in LMNA (Prelamin-A/C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- ExAC rs755465323
- TOPMed rs755465323
- gnomAD rs755465323
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available