A76T (p.Ala76Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
A76T (p.Ala76Thr) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- TOPMed rs1881977913
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available