D53D (p.Asp53Asp) variant of TMC1 (Q8TDI8)
D53D (p.Asp53Asp) in TMC1 (Q8TDI8) is a synonymous 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.
D53D (p.Asp53Asp) variant details
- p.Asp53Asp
- rs1222130340
- gnomAD 9-72694637-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available