N22S (p.Asn22Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
N22S (p.Asn22Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- gnomAD rs1157589918
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.46
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available