R229C (p.Arg229Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R229C (p.Arg229Cys) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
R229C (p.Arg229Cys) variant details
- p.Arg229Cys
- rs776660768
- ClinGen CA2208707
- ClinVar RCV001042660
- UniProt VAR 086865
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.46
- CADD 24.90
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00023)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)