I299V (p.Ile299Val) variant of KIF11 (Kinesin-like protein KIF11)
I299V (p.Ile299Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
I299V (p.Ile299Val) variant details
- p.Ile299Val
- rs1844517913
- ClinGen CA377590407
- ClinVar RCV001283810
- Ensembl rs1844517913
- Likely pathogenic
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- MutPred 0.74
- ClinVar: Likely pathogenic (Microcephaly with or without chorioretinopathy, lymphedema, or i)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available