A269V (p.Ala269Val) variant of KIF1A (Kinesin-like protein KIF1A)
A269V (p.Ala269Val) 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 0.63 / 1. The record also includes population frequency data and published literature.
A269V (p.Ala269Val) variant details
- p.Ala269Val
- rs1469297168
- ClinGen CA351302680
- ClinVar RCV003797933
- gnomAD rs1469297168
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.63
- AlphaMissense 0.99
- MetaLR 0.38
- MetaSVM -0.12
- CADD 26.80
- PolyPhen-2 0.93
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)