D339N (p.Asp339Asn) variant of KIF1A (Kinesin-like protein KIF1A)
D339N (p.Asp339Asn) 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 0.69 / 1. The record also includes population frequency data and published literature.
D339N (p.Asp339Asn) variant details
- p.Asp339Asn
- rs2052419904
- ClinGen CA351296698
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.67
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- 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)