L311F (p.Leu311Phe) variant of KIF1A (Kinesin-like protein KIF1A)
L311F (p.Leu311Phe) 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 0.72 / 1. The record also includes population frequency data and published literature.
L311F (p.Leu311Phe) variant details
- p.Leu311Phe
- rs375492399
- ClinGen CA351297697
- ClinVar RCV003013239
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.78
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)