L25Q (p.Leu25Gln) variant of KIF5A (Kinesin heavy chain isoform 5A)
L25Q (p.Leu25Gln) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- ExAC rs771847226
- gnomAD rs771847226
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.16
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available