V144F (p.Val144Phe) variant of KIF1A (Kinesin-like protein KIF1A)
V144F (p.Val144Phe) 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 Spastic paraplegia 30A, autosomal dominant; Intellectual disability, autosomal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature.
V144F (p.Val144Phe) variant details
- p.Val144Phe
- rs672601364
- ClinGen CA212618
- ClinVar RCV000149476
- ClinVar RCV006450026
- Likely pathogenic
- Spastic paraplegia 30A, autosomal dominant; Intellectual disability, autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.98
- MetaLR 0.62
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Spastic paraplegia 30A, autosomal dominant; Intellectual disabil)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual… (PMID 21376300)