M1T (p.Met1Thr) variant of WWOX (Q9NZC7)
M1T (p.Met1Thr) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs758588684
- ClinGen CA8182973
- ClinVar RCV002570027
- Pathogenic
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- MetaLR 0.69
- MetaSVM 0.51
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available