A2V (p.Ala2Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
A2V (p.Ala2Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs780433858
- ClinGen CA6652488
- ClinVar RCV002027924
- ClinVar RCV002548995
- Uncertain significance
- Spastic paraplegia; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 24.10
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (Spastic paraplegia; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)