E27Q (p.Glu27Gln) variant of SETD2 (Q9BYW2)
E27Q (p.Glu27Gln) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Luscan-Lumish syndrome; Intellectual developmental disorder, autosomal dominant. The record also includes experimental measurements, published literature, and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- rs2545662505
- ClinGen CA352540023
- ClinVar RCV002462416
- ClinVar RCV004725289
- Conflicting interpretations
- Luscan-Lumish syndrome; Intellectual developmental disorder, autosomal dominant
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Luscan-Lumish syndrome; Intellectual developmental disorder, aut)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.163
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)