R350G (p.Arg350Gly) variant of KIF1A (Kinesin-like protein KIF1A)
R350G (p.Arg350Gly) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
R350G (p.Arg350Gly) variant details
- p.Arg350Gly
- rs387907259
- ClinGen CA351296358
- ClinVar RCV001251223
- ClinVar RCV001879817
- Likely pathogenic
- Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.93
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 30)
- EBI: Pathogenic (in SPG30B)
- UniProt: Pathogenic (in SPG30B)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the… (PMID 22258533)
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)