R264H (p.Arg264His) variant of KIF1A (Kinesin-like protein KIF1A)
R264H (p.Arg264His) 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 0.71 / 1. The record also includes population frequency data and published literature.
R264H (p.Arg264His) variant details
- p.Arg264His
- rs1413440372
- ClinGen CA351302879
- cosmic curated COSV10884
- NCI-TCGA Cosmic COSV5750
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.76
- CADD 25.20
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)