N5K (p.Asn5Lys) variant of KIF5A (Kinesin heavy chain isoform 5A)
N5K (p.Asn5Lys) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N5K (p.Asn5Lys) variant details
- p.Asn5Lys
- gnomAD 12-57550286-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.13
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available