R355H (p.Arg355His) variant of KIF1A (Kinesin-like protein KIF1A)
R355H (p.Arg355His) 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 Inborn genetic diseases; not provided; Neuropathy, hereditary sensory and autono. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
R355H (p.Arg355His) variant details
- p.Arg355His
- rs373042822
- ClinGen CA2208546
- cosmic curated COSV57481
- ClinVar RCV000639802
- Uncertain significance
- Inborn genetic diseases; not provided; Neuropathy, hereditary sensory and autono
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.56
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Neuropathy, hereditary se)
- EBI: Variant of uncertain significance (in dbSNP:rs373042822)
- UniProt: Uncertain significance (in dbSNP:rs373042822)
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)