R370H (p.Arg370His) variant of KIF1A (Kinesin-like protein KIF1A)
R370H (p.Arg370His) 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 Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
R370H (p.Arg370His) variant details
- p.Arg370His
- rs1397376358
- ClinGen CA351295449
- NCI-TCGA Cosmic COSV5750
- cosmic curated COSV57506
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.76
- AlphaMissense 0.49
- MetaLR 0.69
- MetaSVM 0.70
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)