L47V (p.Leu47Val) variant of WRN (Q14191)
L47V (p.Leu47Val) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- rs1812389244
- ClinGen CA370912468
- ClinVar RCV001347229
- Ensembl rs1812389244
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)