N56H (p.Asn56His) variant of KIF5A (Kinesin heavy chain isoform 5A)
N56H (p.Asn56His) 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 Spastic paraplegia; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N56H (p.Asn56His) variant details
- p.Asn56His
- rs1162282839
- ClinGen CA385492467
- ClinVar RCV001915912
- ClinVar RCV005238055
- Uncertain significance
- Spastic paraplegia; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Spastic paraplegia; Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- 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)