R41L (p.Arg41Leu) variant of LMNA (Prelamin-A/C)
R41L (p.Arg41Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs1060502215
- ClinGen CA342807753
- ClinVar RCV000518408
- ClinVar RCV000653844
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)