G28A (p.Gly28Ala) variant of SETX (Helicase senataxin)
G28A (p.Gly28Ala) 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 0.36 / 1. The record also includes published literature and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- rs1848480573
- ClinGen CA375351999
- ClinVar RCV002727680
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.09
- MetaLR 0.29
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.18
- EVE 0.11
- 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)