R155H (p.Arg155His) variant of KIF1A (Kinesin-like protein KIF1A)
R155H (p.Arg155His) 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 0.83 / 1. The record also includes population frequency data and published literature.
R155H (p.Arg155His) variant details
- p.Arg155His
- rs2538354351
- ClinGen CA351306837
- ClinVar RCV002305098
- ClinVar RCV006275115
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.85
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)