D15E (p.Asp15Glu) variant of TMC1 (Q8TDI8)
D15E (p.Asp15Glu) in TMC1 (Q8TDI8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D15E (p.Asp15Glu) variant details
- p.Asp15Glu
- 1000Genomes rs2589615
- ESP rs2589615
- ExAC rs2589615
- TOPMed rs2589615
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available