L4V (p.Leu4Val) variant of WWOX (Q9NZC7)
L4V (p.Leu4Val) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 1; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs751733610
- ClinGen CA8182975
- ClinVar RCV001969933
- ClinVar RCV002562839
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 1; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- 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)