F53Y (p.Phe53Tyr) variant of KIF5A (Kinesin heavy chain isoform 5A)
F53Y (p.Phe53Tyr) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F53Y (p.Phe53Tyr) variant details
- p.Phe53Tyr
- gnomAD 12-57563467-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.61
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available