N48S (p.Asn48Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
N48S (p.Asn48Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- TOPMed rs1214073393
- gnomAD rs1214073393
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.40
- CADD 22.30
- PolyPhen-2 0.34
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available