K62R (p.Lys62Arg) variant of SLC30A8 (Q8IWU4)
K62R (p.Lys62Arg) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- gnomAD 8-117147067-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.04
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available