D38H (p.Asp38His) variant of KIF5A (Kinesin heavy chain isoform 5A)
D38H (p.Asp38His) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- gnomAD 12-57550383-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available