A7T (p.Ala7Thr) variant of WWOX (Q9NZC7)
A7T (p.Ala7Thr) 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; Autosomal recessive spinocerebellar ataxia 12; Developm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs371392600
- ClinGen CA8182976
- ClinVar RCV001957246
- ClinVar RCV005772275
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive spinocerebellar ataxia 12; Developm
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 23.00
- PolyPhen-2 0.13
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive spinocerebellar ata)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)