R51C (p.Arg51Cys) variant of KIF5A (Kinesin heavy chain isoform 5A)
R51C (p.Arg51Cys) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Spastic paraplegia; Hereditary spastic paraplegia 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- rs769763596
- ClinGen CA6652518
- ClinVar RCV001900170
- ClinVar RCV002290782
- Uncertain significance
- Inborn genetic diseases; Spastic paraplegia; Hereditary spastic paraplegia 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.57
- AlphaMissense 0.14
- MetaLR 0.64
- MetaSVM 0.43
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Spastic paraplegia; Hereditary spastic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)