N33H (p.Asn33His) variant of SLC30A8 (Q8IWU4)
N33H (p.Asn33His) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N33H (p.Asn33His) variant details
- p.Asn33His
- gnomAD 8-117146979-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.09
- CADD 20.20
- PolyPhen-2 0.33
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available