E57K (p.Glu57Lys) variant of TMC1 (Q8TDI8)
E57K (p.Glu57Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- cosmic curated COSV10453
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- ESM-1b 0.42
- AlphaMissense 0.19
- Structural context available