D52D (p.Asp52Asp) variant of TMC1 (Q8TDI8)
D52D (p.Asp52Asp) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D52D (p.Asp52Asp) variant details
- p.Asp52Asp
- gnomAD 9-72694634-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available