E610V (p.Glu610Val) variant of SUZ12 (Polycomb protein SUZ12)
E610V (p.Glu610Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Imagawa-Matsumoto syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
E610V (p.Glu610Val) variant details
- p.Glu610Val
- rs1131692177
- ClinGen CA399035456
- ClinVar RCV000495116
- UniProt VAR 078318
- Pathogenic
- Imagawa-Matsumoto syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Imagawa-Matsumoto syndrome)
- EBI: Pathogenic (in IMMAS)
- UniProt: Pathogenic (in IMMAS)
- Structural context available
- Cited in: Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. (PMID 28229514)
- Cited in: Novel SUZ12 mutations in Weaver-like syndrome. (PMID 30019515)