D44G (p.Asp44Gly) variant of KIF11 (Kinesin-like protein KIF11)
D44G (p.Asp44Gly) 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 variant effect predictions and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- rs1844430488
- ClinGen CA377587789
- ClinVar RCV001331250
- Ensembl rs1844430488
- Uncertain significance
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa
- Missense
- MutPred 0.45
- ClinVar: Uncertain significance (Microcephaly with or without chorioretinopathy, lymphedema, or i)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available