Y6H (p.Tyr6His) variant of WWOX (Q9NZC7)
Y6H (p.Tyr6His) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- rs1239497096
- ClinGen CA396841753
- ClinVar RCV001197994
- gnomAD rs1239497096
- Uncertain significance
- Developmental and epileptic encephalopathy, 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 25.40
- PolyPhen-2 0.90
- SIFT 0.10
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available