M70T (p.Met70Thr) variant of KIF11 (Kinesin-like protein KIF11)
M70T (p.Met70Thr) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa. The record also includes structural context.
M70T (p.Met70Thr) variant details
- p.Met70Thr
- Ensembl rs1844431429
- Uncertain significance
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa
- Missense
- ClinVar: Uncertain significance (Microcephaly with or without chorioretinopathy, lymphedema, or i)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available