A52D (p.Ala52Asp) variant of DCX (O43602)
A52D (p.Ala52Asp) in DCX (O43602) 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 0.48 / 1. The record also includes published literature and structural context.
A52D (p.Ala52Asp) variant details
- p.Ala52Asp
- rs1556405160
- ClinGen CA414246993
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 1.00
- MetaLR 0.21
- MetaSVM -0.82
- SIFT 0.00
- EVE 0.94
- 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)