V6S (p.Val6Ser) variant of TMC1 (Q8TDI8)
V6S (p.Val6Ser) 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.
V6S (p.Val6Ser) variant details
- p.Val6Ser
- rs878853229
- gnomAD 9-72648657-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 24.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available