S9N (p.Ser9Asn) variant of KIF5A (Kinesin heavy chain isoform 5A)
S9N (p.Ser9Asn) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1376496207
- gnomAD rs1376496207
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.16
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available