T88S (p.Thr88Ser) variant of KIF5A (Kinesin heavy chain isoform 5A)
T88S (p.Thr88Ser) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T88S (p.Thr88Ser) variant details
- p.Thr88Ser
- gnomAD 12-57563664-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available