D44E (p.Asp44Glu) variant of KIF11 (Kinesin-like protein KIF11)
D44E (p.Asp44Glu) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- rs1564704121
- ClinGen CA377587791
- ClinVar RCV001765941
- Ensembl rs1564704121
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.08
- CADD 14.80
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available