T4N (p.Thr4Asn) variant of KIF5A (Kinesin heavy chain isoform 5A)
T4N (p.Thr4Asn) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T4N (p.Thr4Asn) variant details
- p.Thr4Asn
- gnomAD 12-57550282-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.06
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available