D132A (p.Asp132Ala) variant of KIF1A (Kinesin-like protein KIF1A)
D132A (p.Asp132Ala) 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 0.38 / 1. The record also includes population frequency data and published literature.
D132A (p.Asp132Ala) variant details
- p.Asp132Ala
- rs2538414211
- ClinGen CA351309370
- ClinVar RCV003806302
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)