I42M (p.Ile42Met) variant of KIF5A (Kinesin heavy chain isoform 5A)
I42M (p.Ile42Met) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia; Hereditary spastic paraplegia 10; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I42M (p.Ile42Met) variant details
- p.Ile42Met
- rs149569914
- ClinGen CA6652500
- ClinVar RCV001111424
- ClinVar RCV001303301
- Uncertain significance
- Spastic paraplegia; Hereditary spastic paraplegia 10; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- CADD 19.40
- PolyPhen-2 0.20
- SIFT 0.07
- ClinVar: Uncertain significance (Spastic paraplegia; Hereditary spastic paraplegia 10; not provid)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)