T24A (p.Thr24Ala) variant of ACAD9 (Q9H845)
T24A (p.Thr24Ala) in ACAD9 (Q9H845) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs1303369813
- ClinGen CA354429609
- ClinVar RCV002569704
- ClinVar RCV005782308
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.06
- MetaLR 0.76
- MetaSVM 0.05
- PolyPhen-2 0.00
- SIFT 0.26
- MutPred 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)