V6V (p.Val6Val) variant of TMC1 (Q8TDI8)
V6V (p.Val6Val) in TMC1 (Q8TDI8) is a protein-truncating 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.
V6V (p.Val6Val) variant details
- p.Val6Val
- rs1310500871
- gnomAD 9-72688710-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.68
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available