G38E (p.Gly38Glu) variant of CACNA1D (Q01668)
G38E (p.Gly38Glu) in CACNA1D (Q01668) 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 0.57 / 1. The record also includes published literature and structural context.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- rs752623993
- ClinGen CA353381770
- ClinVar RCV003128900
- ClinVar RCV006342901
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM 0.16
- PolyPhen-2 0.13
- SIFT 0.25
- MutPred 0.21
- ClinVar: Uncertain significance (not provided; 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)