H141L (p.His141Leu) variant of KIF11 (Kinesin-like protein KIF11)
H141L (p.His141Leu) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa. The record also includes variant effect predictions and structural context.
H141L (p.His141Leu) variant details
- p.His141Leu
- rs1844462612
- ClinGen CA377589291
- ClinVar RCV001775280
- TOPMed rs1844462612
- Likely pathogenic
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa
- Missense
- MutPred 0.49
- ClinVar: Likely pathogenic (Microcephaly with or without chorioretinopathy, lymphedema, or i)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available