D16S (p.Asp16Ser) variant of WWOX (Q9NZC7)
D16S (p.Asp16Ser) in WWOX (Q9NZC7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D16S (p.Asp16Ser) variant details
- p.Asp16Ser
- rs730880291
- gnomAD 16-78099822-AGGAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. (PMID 25411445)