P47T (p.Pro47Thr) variant of WWOX (Q9NZC7)
P47T (p.Pro47Thr) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive spinocerebellar ataxia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- rs587777128
- ClinGen CA150589
- ClinVar RCV000087049
- UniProt VAR 070992
- Pathogenic
- Autosomal recessive spinocerebellar ataxia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive spinocerebellar ataxia 12)
- EBI: Pathogenic (in SCAR12)
- UniProt: Pathogenic (in SCAR12)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. (PMID 17470496)
- Cited in: The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental… (PMID 24369382)