F46S (p.Phe46Ser) variant of WRN (Q14191)
F46S (p.Phe46Ser) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F46S (p.Phe46Ser) variant details
- p.Phe46Ser
- rs772246871
- ClinGen CA4703990
- ClinVar RCV000690700
- ExAC rs772246871
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.22
- CADD 25.00
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00087)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)