F64L (p.Phe64Leu) variant of WRN (Q14191)
F64L (p.Phe64Leu) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F64L (p.Phe64Leu) variant details
- p.Phe64Leu
- rs1374804871
- gnomAD rs1374804871
- ClinGen CA370912697
- ClinVar RCV001044389
- Uncertain significance
- Inborn genetic diseases; Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- CADD 10.90
- PolyPhen-2 0.04
- SIFT 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases; Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)