N11H (p.Asn11His) variant of SLC30A8 (Q8IWU4)
N11H (p.Asn11His) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N11H (p.Asn11His) variant details
- p.Asn11His
- ExAC rs778259024
- TOPMed rs778259024
- gnomAD rs778259024
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.33
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available