N79S (p.Asn79Ser) variant of KIF5A (Kinesin heavy chain isoform 5A)
N79S (p.Asn79Ser) 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 Spastic paraplegia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N79S (p.Asn79Ser) variant details
- p.Asn79Ser
- rs1299838179
- ClinGen CA385493278
- ClinVar RCV001566522
- ClinVar RCV001866002
- Uncertain significance
- Spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.84
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Spastic paraplegia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available