R49R (p.Arg49Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R49R (p.Arg49Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R49R (p.Arg49Arg) variant details
- p.Arg49Arg
- gnomAD 16-31484693-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 17.90
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available