A39D (p.Ala39Asp) variant of SPAST (Spastin)
A39D (p.Ala39Asp) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- rs1176214835
- ClinGen CA346601385
- ClinVar RCV002661693
- ClinVar RCV006560816
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.32
- CADD 17.80
- PolyPhen-2 0.25
- SIFT 0.47
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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)