S47L (p.Ser47Leu) variant of GRIA1 (Glutamate receptor 1)
S47L (p.Ser47Leu) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- rs780495356
- ClinGen CA3524233
- cosmic curated COSV53607
- ClinVar RCV002673675
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.25
- MetaLR 0.09
- MetaSVM -1.06
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)