T7M (p.Thr7Met) variant of SLC30A8 (Q8IWU4)
T7M (p.Thr7Met) 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 0.30 / 1. The record also includes population frequency data and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- rs755057304
- NCI-TCGA Cosmic COSV6997
- ExAC rs755057304
- TOPMed rs755057304
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available