N6D (p.Asn6Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
N6D (p.Asn6Asp) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N6D (p.Asn6Asp) variant details
- p.Asn6Asp
- TOPMed rs1434215781
- gnomAD rs1434215781
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.14
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available