G116S (p.Gly116Ser) variant of SLC2A1 (P11166)
G116S (p.Gly116Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G116S (p.Gly116Ser) variant details
- p.Gly116Ser
- rs777945822
- ClinGen CA803552
- ClinVar RCV004458976
- ExAC rs777945822
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.22
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.8e-05)
- 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)