N48D (p.Asn48Asp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
N48D (p.Asn48Asp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- gnomAD 16-31484688-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available