S51G (p.Ser51Gly) variant of KIF11 (Kinesin-like protein KIF11)
S51G (p.Ser51Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S51G (p.Ser51Gly) variant details
- p.Ser51Gly
- rs1844430675
- ClinGen CA377587829
- ClinVar RCV001331251
- Ensembl rs1844430675
- Uncertain significance
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.42
- CADD 25.40
- PolyPhen-2 0.74
- SIFT 0.02
- ClinVar: Uncertain significance (Microcephaly with or without chorioretinopathy, lymphedema, or i)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available