L6M (p.Leu6Met) variant of WRN (Q14191)
L6M (p.Leu6Met) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- rs202148988
- ClinGen CA4703957
- ClinVar RCV000633182
- 1000Genomes rs202148988
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0378
- REVEL 0.01
- CADD 1.78
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)