G3R (p.Gly3Arg) variant of KIF1A (Kinesin-like protein KIF1A)
G3R (p.Gly3Arg) 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; Hereditary spastic paraplegia 30; Neuropathy, hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- rs751960710
- ClinGen CA2208926
- NCI-TCGA Cosmic COSV5749
- cosmic curated COSV57494
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuropathy, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.54
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)