V241L (p.Val241Leu) variant of KIF1A (Kinesin-like protein KIF1A)
V241L (p.Val241Leu) 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 0.74 / 1. The record also includes population frequency data and published literature.
V241L (p.Val241Leu) variant details
- p.Val241Leu
- rs1020913034
- ClinGen CA351303436
- ClinVar RCV003796556
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.67
- CADD 33.00
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)