G372R (p.Gly372Arg) variant of WWOX (Q9NZC7)
G372R (p.Gly372Arg) 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; Autosomal recessive spinocerebel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
G372R (p.Gly372Arg) variant details
- p.Gly372Arg
- rs587777127
- ClinGen CA396537069
- ClinVar RCV001891133
- UniProt VAR 070993
- Uncertain significance
- Developmental and epileptic encephalopathy, 28; Autosomal recessive spinocerebel
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 25.10
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- EBI: Pathogenic (in SCAR12)
- UniProt: Pathogenic (in SCAR12)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental… (PMID 24369382)
- Cited in: The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth… (PMID 24456803)