R355C (p.Arg355Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R355C (p.Arg355Cys) 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 0.76 / 1. The record also includes population frequency data and published literature.
R355C (p.Arg355Cys) variant details
- p.Arg355Cys
- rs1225233710
- ClinGen CA351295825
- NCI-TCGA Cosmic COSV5749
- cosmic curated COSV57494
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.73
- CADD 28.80
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance (in dbSNP:rs373042822)
- UniProt: Uncertain significance (in dbSNP:rs373042822)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)