F64S (p.Phe64Ser) variant of WRN (Q14191)
F64S (p.Phe64Ser) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F64S (p.Phe64Ser) variant details
- p.Phe64Ser
- rs2130005674
- ClinGen CA370912689
- ClinVar RCV001987843
- Ensembl rs2130005674
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.37
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)