A65V (p.Ala65Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
A65V (p.Ala65Val) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- ExAC rs756639633
- gnomAD rs756639633
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available