D52E (p.Asp52Glu) variant of TMC1 (Q8TDI8)
D52E (p.Asp52Glu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- gnomAD 9-72694634-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 10.10
- PolyPhen-2 0.06
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available