V359L (p.Val359Leu) variant of KIF1A (Kinesin-like protein KIF1A)
V359L (p.Val359Leu) 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; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature.
V359L (p.Val359Leu) variant details
- p.Val359Leu
- rs2125969107
- ClinGen CA351295755
- ClinVar RCV002998871
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.06
- MetaLR 0.52
- MetaSVM -0.23
- PolyPhen-2 0.00
- SIFT 0.30
- EVE 0.14
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)