R22C (p.Arg22Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R22C (p.Arg22Cys) 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 0.69 / 1. The record also includes population frequency data and published literature.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- rs767331601
- ClinGen CA2208919
- 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 0.688
- REVEL 0.61
- CADD 29.20
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)