P292L (p.Pro292Leu) variant of KIF1A (Kinesin-like protein KIF1A)
P292L (p.Pro292Leu) 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 0.48 / 1. The record also includes population frequency data and published literature.
P292L (p.Pro292Leu) variant details
- p.Pro292Leu
- rs2538238870
- ClinGen CA351301547
- ClinVar RCV003785750
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.31
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.04
- 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)