K16R (p.Lys16Arg) variant of SLC30A8 (Q8IWU4)
K16R (p.Lys16Arg) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- gnomAD 8-117135374-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.08
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available