I42T (p.Ile42Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
I42T (p.Ile42Thr) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- gnomAD 12-57550396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.36
- CADD 29.80
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available