D124E (p.Asp124Glu) variant of CACNA1A (O00555)
D124E (p.Asp124Glu) in CACNA1A (O00555) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D124E (p.Asp124Glu) variant details
- p.Asp124Glu
- rs1342963547
- ClinGen CA404967797
- ClinVar RCV003238962
- ClinVar RCV005794512
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0865
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.06
- CADD 5.29
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)