R6G (p.Arg6Gly) variant of SLC30A8 (Q8IWU4)
R6G (p.Arg6Gly) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 8-117135343-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available