D38N (p.Asp38Asn) variant of KIF5A (Kinesin heavy chain isoform 5A)
D38N (p.Asp38Asn) 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.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- gnomAD 12-57550383-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available