K72N (p.Lys72Asn) variant of KIF5A (Kinesin heavy chain isoform 5A)
K72N (p.Lys72Asn) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K72N (p.Lys72Asn) variant details
- p.Lys72Asn
- gnomAD 12-57563525-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.26
- CADD 27.20
- PolyPhen-2 0.16
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available