V40I (p.Val40Ile) variant of KIF5A (Kinesin heavy chain isoform 5A)
V40I (p.Val40Ile) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spastic paraplegia; not provided. 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.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- rs1565690660
- ClinGen CA385496390
- ClinVar RCV002023096
- ClinVar RCV004721007
- Conflicting interpretations
- Spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available