G43R (p.Gly43Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
G43R (p.Gly43Arg) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- gnomAD 12-57550398-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.19
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available