A68T (p.Ala68Thr) variant of SLC30A8 (Q8IWU4)
A68T (p.Ala68Thr) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar, EBI, 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 0.10 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- ESP rs200572112
- ExAC rs200572112
- TOPMed rs200572112
- gnomAD rs200572112
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0968
- REVEL 0.01
- MetaLR 0.10
- MetaSVM -1.02
- CADD 2.77
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available