K28Q (p.Lys28Gln) variant of WWOX (Q9NZC7)
K28Q (p.Lys28Gln) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive spinocerebellar ataxia 12; Developmental and e. 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.
K28Q (p.Lys28Gln) variant details
- p.Lys28Gln
- rs771726317
- ClinGen CA8182987
- ClinVar RCV001059820
- ClinVar RCV001760018
- Uncertain significance
- not provided; Autosomal recessive spinocerebellar ataxia 12; Developmental and e
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 24.60
- PolyPhen-2 0.52
- SIFT 0.57
- ClinVar: Uncertain significance (not provided; Autosomal recessive spinocerebellar ataxia 12; Dev)
- 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)