V6Y (p.Val6Tyr) variant of TMC1 (Q8TDI8)
V6Y (p.Val6Tyr) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V6Y (p.Val6Tyr) variant details
- p.Val6Tyr
- gnomAD 9-72648657-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 24.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available