N56D (p.Asn56Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
N56D (p.Asn56Asp) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N56D (p.Asn56Asp) variant details
- p.Asn56Asp
- gnomAD 12-57563475-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available