S61L (p.Ser61Leu) variant of KIF1A (Kinesin-like protein KIF1A)
S61L (p.Ser61Leu) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spastic paraplegia; Intellectual disability, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
S61L (p.Ser61Leu) variant details
- p.Ser61Leu
- rs2126098498
- ClinGen CA351311666
- NCI-TCGA Cosmic COSV5750
- cosmic curated COSV57501
- Uncertain significance
- not provided; Hereditary spastic paraplegia; Intellectual disability, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.47
- PolyPhen-2 0.35
- SIFT 0.01
- MutPred 0.52
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia; Intellectual disabi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)