R11L (p.Arg11Leu) variant of LMNA (Prelamin-A/C)
R11L (p.Arg11Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- rs1649700040
- ClinGen CA342806869
- ClinVar RCV001313361
- Ensembl rs1649700040
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 25.70
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)