D60H (p.Asp60His) variant of TMC1 (Q8TDI8)
D60H (p.Asp60His) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D60H (p.Asp60His) variant details
- p.Asp60His
- Ensembl rs2132189624
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- ESM-1b 1.00
- AlphaMissense 0.69
- Structural context available