L44V (p.Leu44Val) variant of WRN (Q14191)
L44V (p.Leu44Val) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Werner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- rs139775895
- ClinGen CA4703988
- ClinVar RCV000470096
- ClinVar RCV001591059
- Conflicting interpretations
- Werner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.25
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Werner syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)