K29R (p.Lys29Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
K29R (p.Lys29Arg) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- gnomAD 12-57550357-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available