L13F (p.Leu13Phe) variant of KIF5A (Kinesin heavy chain isoform 5A)
L13F (p.Leu13Phe) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- gnomAD 12-57550308-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.13
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available