S4R (p.Ser4Arg) variant of SLC2A1 (P11166)
S4R (p.Ser4Arg) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- TOPMed rs1295646319
- gnomAD rs1295646319
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.17
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available