R49S (p.Arg49Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R49S (p.Arg49Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R49S (p.Arg49Ser) variant details
- p.Arg49Ser
- gnomAD 16-31484693-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.74
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available