D66N (p.Asp66Asn) variant of GRIA1 (Glutamate receptor 1)
D66N (p.Asp66Asn) in GRIA1 (Glutamate receptor 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D66N (p.Asp66Asn) variant details
- p.Asp66Asn
- rs144700432
- ClinGen CA3524241
- cosmic curated COSV10878
- ClinVar RCV004393714
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.62
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00098)
- 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)