S252R (p.Ser252Arg) variant of KIF1A (Kinesin-like protein KIF1A)
S252R (p.Ser252Arg) 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 30; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
S252R (p.Ser252Arg) variant details
- p.Ser252Arg
- UniProt VAR 083698
- Conflicting interpretations
- Hereditary spastic paraplegia 30; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.73
- CADD 13.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 30; Inborn genetic diseases)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Population evidence available
- Cited in: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID 31488895)
- Cited in: Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. (PMID 25585697)