F46L (p.Phe46Leu) variant of WRN (Q14191)
F46L (p.Phe46Leu) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- rs1060500072
- NCI-TCGA TCGA novel
- ClinGen CA16612412
- ClinVar RCV000460346
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)