K43R (p.Lys43Arg) variant of TMC1 (Q8TDI8)
K43R (p.Lys43Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- cosmic curated COSV52773
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available