N20K (p.Asn20Lys) variant of KIF5A (Kinesin heavy chain isoform 5A)
N20K (p.Asn20Lys) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N20K (p.Asn20Lys) variant details
- p.Asn20Lys
- gnomAD 12-57550331-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.57
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available