R153H (p.Arg153His) variant of KIF1A (Kinesin-like protein KIF1A)
R153H (p.Arg153His) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
R153H (p.Arg153His) variant details
- p.Arg153His
- rs750829308
- ClinGen CA2208758
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV5748
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.70
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)