N110D (p.Asn110Asp) variant of GABRB3 (P28472)
N110D (p.Asn110Asp) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
N110D (p.Asn110Asp) variant details
- p.Asn110Asp
- rs767830097
- ClinGen CA391461012
- ClinVar RCV002445812
- ClinVar RCV005096226
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.79
- MetaLR 0.56
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)