G3S (p.Gly3Ser) variant of GRIN2D (O15399)
G3S (p.Gly3Ser) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- rs908012919
- ClinGen CA309325415
- ClinVar RCV002027054
- ClinVar RCV006372565
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 19.20
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0088)
- 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)