N5D (p.Asn5Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
N5D (p.Asn5Asp) 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; not provided; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N5D (p.Asn5Asp) variant details
- p.Asn5Asp
- rs755532095
- ClinGen CA6652489
- ClinVar RCV002894199
- ClinVar RCV004983160
- Uncertain significance
- Inborn genetic diseases; not provided; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)