N48T (p.Asn48Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
N48T (p.Asn48Thr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N48T (p.Asn48Thr) variant details
- p.Asn48Thr
- gnomAD 16-31484689-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.62
- CADD 26.00
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available