P54L (p.Pro54Leu) variant of KIF5A (Kinesin heavy chain isoform 5A)
P54L (p.Pro54Leu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- Ensembl rs1881972414
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.44
- CADD 25.10
- PolyPhen-2 0.80
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available