P55S (p.Pro55Ser) variant of KIF5A (Kinesin heavy chain isoform 5A)
P55S (p.Pro55Ser) 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.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- gnomAD rs1169287923
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.25
- CADD 20.10
- PolyPhen-2 0.36
- SIFT 0.34
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available