N6H (p.Asn6His) variant of KIF5A (Kinesin heavy chain isoform 5A)
N6H (p.Asn6His) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N6H (p.Asn6His) variant details
- p.Asn6His
- gnomAD 12-57550287-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available