R42T (p.Arg42Thr) variant of TMC1 (Q8TDI8)
R42T (p.Arg42Thr) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
R42T (p.Arg42Thr) variant details
- p.Arg42Thr
- cosmic curated COSV99919
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- ESM-1b 0.00
- AlphaMissense 0.81
- Structural context available