p.Ser9dup variant of KIF5A (Kinesin heavy chain isoform 5A)
p.Ser9dup in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser9dup variant details
- gnomAD 12-57550293-T-TGT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 22.70
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available