D52H (p.Asp52His) variant of TMC1 (Q8TDI8)
D52H (p.Asp52His) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
D52H (p.Asp52His) variant details
- p.Asp52His
- gnomAD rs1033828130
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- ESM-1b 0.56
- AlphaMissense 0.22
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available