V1743L (p.Val1743Leu) variant of SETD2 (Q9BYW2)
V1743L (p.Val1743Leu) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder, autosomal dominant 70.
V1743L (p.Val1743Leu) variant details
- p.Val1743Leu
- Ensembl rs2107651109
- Likely pathogenic
- Intellectual developmental disorder, autosomal dominant 70
- Missense
- ClinVar: Likely pathogenic (Intellectual developmental disorder, autosomal dominant 70)
- UniProt: Likely pathogenic