R155C (p.Arg155Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R155C (p.Arg155Cys) 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 Intellectual disability, autosomal dominant 9; Neuropathy, hereditary sensory, t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
R155C (p.Arg155Cys) variant details
- p.Arg155Cys
- rs1434341247
- ClinGen CA351306864
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57485
- Uncertain significance
- Intellectual disability, autosomal dominant 9; Neuropathy, hereditary sensory, t
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.84
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 9; Neuropathy, hered)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)