A545T (p.Ala545Thr) variant of CACNA2D2 (Q9NY47)
A545T (p.Ala545Thr) in CACNA2D2 (Q9NY47) 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 0.31 / 1. The record also includes published literature and structural context.
A545T (p.Ala545Thr) variant details
- p.Ala545Thr
- rs1200566757
- ClinGen CA352925676
- ClinVar RCV002836871
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.23
- MetaLR 0.03
- MetaSVM -1.10
- PolyPhen-2 0.82
- SIFT 0.07
- MutPred 0.45
- 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)