L275Q (p.Leu275Gln) variant of KIF1A (Kinesin-like protein KIF1A)
L275Q (p.Leu275Gln) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.94 / 1. The record also includes published literature.
L275Q (p.Leu275Gln) variant details
- p.Leu275Gln
- rs2054279545
- ClinGen CA351302603
- ClinVar RCV003808958
- Likely pathogenic
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.95
- ClinVar: Likely pathogenic (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Likely pathogenic (in KAND)
- UniProt: Likely pathogenic (in KAND)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)