V38I (p.Val38Ile) variant of KIF1A (Kinesin-like protein KIF1A)
V38I (p.Val38Ile) 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 not provided; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- rs2538463288
- ClinGen CA351311834
- ClinVar RCV002659467
- ClinVar RCV005639429
- Uncertain significance
- not provided; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.26
- CADD 7.61
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 30; Neuropathy, here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)