N33D (p.Asn33Asp) variant of DSG1 (Desmoglein-1)
N33D (p.Asn33Asp) in DSG1 (Desmoglein-1) 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.
N33D (p.Asn33Asp) variant details
- p.Asn33Asp
- rs2071688855
- ClinGen CA402127522
- ClinVar RCV003362360
- Ensembl rs2071688855
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.11
- SIFT 0.87
- EVE 0.12
- 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)