N130T (p.Asn130Thr) variant of SETX (Helicase senataxin)
N130T (p.Asn130Thr) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
N130T (p.Asn130Thr) variant details
- p.Asn130Thr
- rs1848058133
- ClinGen CA375350503
- ClinVar RCV002366384
- TOPMed rs1848058133
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.28
- MetaLR 0.21
- MetaSVM -0.82
- PolyPhen-2 0.16
- SIFT 0.12
- MutPred 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)