N361S (p.Asn361Ser) variant of KIF1A (Kinesin-like protein KIF1A)
N361S (p.Asn361Ser) 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 not provided; Neuropathy, hereditary sensory, type 2C; Hereditary spastic parapl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
N361S (p.Asn361Ser) variant details
- p.Asn361Ser
- rs1575603705
- ClinGen CA351295670
- ClinVar RCV003785952
- ClinVar RCV005871309
- Uncertain significance
- not provided; Neuropathy, hereditary sensory, type 2C; Hereditary spastic parapl
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.88
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Neuropathy, hereditary sensory, type 2C; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)