R51H (p.Arg51His) variant of KIF5A (Kinesin heavy chain isoform 5A)
R51H (p.Arg51His) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of KIF5A-related disorder; Spastic paraplegia; Hereditary spastic paraplegia 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- rs773336059
- ClinGen CA6652519
- ClinVar RCV001111425
- ClinVar RCV002069798
- Conflicting interpretations
- KIF5A-related disorder; Spastic paraplegia; Hereditary spastic paraplegia 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (KIF5A-related disorder; Spastic paraplegia; Hereditary spastic p)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)