N56T (p.Asn56Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
N56T (p.Asn56Thr) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N56T (p.Asn56Thr) variant details
- p.Asn56Thr
- ExAC rs774510700
- gnomAD rs774510700
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available