K11R (p.Lys11Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
K11R (p.Lys11Arg) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- ExAC rs748864821
- TOPMed rs748864821
- gnomAD rs748864821
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available