M545T (p.Met545Thr) variant of KIF11 (Kinesin-like protein KIF11)
M545T (p.Met545Thr) 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 0.33 / 1. The record also includes population frequency data and structural context.
M545T (p.Met545Thr) variant details
- p.Met545Thr
- rs1564713037
- ClinGen CA377592350
- ClinVar RCV000825016
- Ensembl rs1564713037
- Likely pathogenic
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.24
- SIFT 0.11
- ClinVar: Likely pathogenic (Microcephaly with or without chorioretinopathy, lymphedema, or i)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available