R72K (p.Arg72Lys) variant of TMC1 (Q8TDI8)
R72K (p.Arg72Lys) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
R72K (p.Arg72Lys) variant details
- p.Arg72Lys
- TOPMed rs1381809026
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available