E70A (p.Glu70Ala) variant of TMC1 (Q8TDI8)
E70A (p.Glu70Ala) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E70A (p.Glu70Ala) variant details
- p.Glu70Ala
- TOPMed rs1293692474
- gnomAD rs1293692474
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.20
- PolyPhen-2 0.26
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available