N57S (p.Asn57Ser) variant of SLC2A4 (P14672)
N57S (p.Asn57Ser) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- TOPMed rs1265332623
- gnomAD rs1265332623
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available