R129W (p.Arg129Trp) variant of KIF1A (Kinesin-like protein KIF1A)
R129W (p.Arg129Trp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.56 / 1. The record also includes population frequency data and published literature.
R129W (p.Arg129Trp) variant details
- p.Arg129Trp
- rs868067075
- ClinGen CA68141955
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Conflicting interpretations
- Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuropathy, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.62
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- 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)