E12G (p.Glu12Gly) variant of TMC1 (Q8TDI8)
E12G (p.Glu12Gly) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- rs2132183942
- ClinGen CA373723182
- ClinVar RCV001887947
- Ensembl rs2132183942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- ESM-1b 0.37
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.96
- PolyPhen-2 0.06
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available