C8F (p.Cys8Phe) variant of KIF5A (Kinesin heavy chain isoform 5A)
C8F (p.Cys8Phe) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KIF5A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C8F (p.Cys8Phe) variant details
- p.Cys8Phe
- rs940856567
- ClinGen CA385495700
- ClinVar RCV004550692
- Uncertain significance
- KIF5A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (KIF5A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available