P14L (p.Pro14Leu) variant of KIF1A (Kinesin-like protein KIF1A)
P14L (p.Pro14Leu) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia; not provided; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs879253976
- ClinGen CA10584200
- NCI-TCGA Cosmic COSV1002
- Conflicting interpretations
- Hereditary spastic paraplegia; not provided; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia; not provided; Intellectual disabi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)